SPG7 - SPG7 matrix AAA peptidase subunit, paraplegin Gene

Also Known as CAR; PGN; CMAR; SPG5C

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6687

About SPG7

Cytogenetic location: 16q24.3 Genomic coordinates (GRCh38): 16:89,508,388-89,557,768 (from NCBI)

This gene has 96 transcripts (splice variants), 213 orthologues, 2 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 11.5), skin (RPKM 10.1) and 25 other tissues.

Summary

This gene encodes a mitochondrial metalloprotease protein that is a member of the AAA family. Members of this protein family share an ATPase domain and have roles in diverse cellular processes including membrane trafficking, intracellular motility, organelle biogenesis, protein folding, and proteolysis. Mutations in this gene cause autosomal recessive spastic paraplegia 7. Two transcript variants encoding distinct isoforms have been identified. [provided by RefSeq, Mar 2014]

SPG7 Products (3)

mRNA	Protein	Name
NM_001363850.1	NP_001350779.1	paraplegin isoform 3
NM_003119.4	NP_003110.1	paraplegin isoform 1 precursor
NM_199367.3	NP_955399.1	paraplegin isoform 2 precursor

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables metalloendopeptidase activity	IDA IDA: Inferred from direct assay	28396416	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	14623864	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in mitochondrial outer membrane permeabilization involved in programmed cell death	IMP IMP: Inferred from mutant phenotype	26387735	GOA
involved in regulation of calcium import into the mitochondrion	IDA IDA: Inferred from direct assay	28396416	GOA
involved in regulation of mitochondrial membrane permeability	IMP IMP: Inferred from mutant phenotype	26387735	GOA

Cellular Component GO Annotation	Evidence	References	Source
part of m-AAA complex	IDA IDA: Inferred from direct assay	28396416	GOA
is active in mitochondrial inner membrane	IDA IDA: Inferred from direct assay	9635427	GOA
part of mitochondrial permeability transition pore complex	IDA IDA: Inferred from direct assay	26387735	GOA

EXP: Inferred from Experiment IDA: Inferred from direct assay IPI: Inferred from physical interaction IMP: Inferred from mutant phenotype IGI: Inferred from genetic interaction IEP: Inferred from expression pattern

SPG7 Protein Structure

FtsH_ext

AAA

Peptidase_M41

0
200
400
600
795 a.a.

Protein Preferred Names	Protein Names
paraplegin	SPG7, paraplegin matrix AAA peptidase subunit

SPG7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPG7	Q9UQ90	KRT40	Homo sapiens	Q6A162	Y2H Array	25416956
Intra	SPG7	Q9UQ90	KRTAP10-9	Homo sapiens	P60411	Y2H Array	25416956
Intra	SPG7	Q9UQ90	KRTAP10-9	Homo sapiens	P60411	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	KRTAP10-7	Homo sapiens	P60409	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	KRTAP10-7	Homo sapiens	P60409	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	PSTPIP1	Homo sapiens	O43586	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	NOTCH2NLC	Homo sapiens	P0DPK4	Y2H Array	32296183
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Y2H Array	25416956
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Y2H Array	32296183
Intra	SPG7	Q9UQ90	PNMA1	Homo sapiens	Q8ND90	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978	Y2H Array	25416956
Intra	SPG7	Q9UQ90	PSME3	Homo sapiens	P61289	Y2H Array	25416956
Intra	SPG7	Q9UQ90	PSME3	Homo sapiens	P61289	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	PSME3	Homo sapiens	P61289	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	CYSRT1	Homo sapiens	A8MQ03	Y2H Array	32296183
Intra	SPG7	Q9UQ90	CYSRT1	Homo sapiens	A8MQ03	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978-2	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	HNRNPK	Homo sapiens	P61978-2	Y2H Array	32296183
Intra	SPG7	Q9UQ90	HSF2BP	Homo sapiens	O75031	Y2H Array	32296183
Intra	SPG7	Q9UQ90	HSF2BP	Homo sapiens	O75031	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	NDUFB9	Homo sapiens	Q9Y6M9	Anti Tag CoIP	28514442
Intra	SPG7	Q9UQ90	NDUFB9	Homo sapiens	Q9Y6M9	Anti Tag CoIP	33961781
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	32296183
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Validated Y2H	32296183
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Array	25416956
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Array	32296183
Intra	SPG7	Q9UQ90	MDFI	Homo sapiens	Q99750	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	LZTS2	Homo sapiens	Q9BRK4	Y2H Array	25416956
Intra	SPG7	Q9UQ90	KHDRBS2	Homo sapiens	Q5VWX1	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	KHDRBS2	Homo sapiens	Q5VWX1	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Y2H Prey Pooling	25416956
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Y2H	21516116
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	MTUS2	Homo sapiens	Q5JR59	Y2H Array	25416956
Intra	SPG7	Q9UQ90	CCNDBP1	Homo sapiens	O95273	Validated Y2H	25416956
Intra	SPG7	Q9UQ90	CCNDBP1	Homo sapiens	O95273	Y2H Array	25416956
Intra	SPG7	Q9UQ90	NOTCH2NLA	Homo sapiens	Q7Z3S9	Validated Y2H	25416956

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 7, Autosomal Recessive	SPG7 Hereditary Spastic Paraplegia 7 Spastic Paraplegia Type 7 Spastic Paraplegia 7 Hereditary Spastic Paraplegia, Paraplegin Type Autosomal Recessive Spastic Paraplegia 7 Hereditary Spastic Paraplegia Paraplegin Type Spastic Paraplegia-7 Paraplegia, Spastic, Autosomal Recessive, Type 7 Spastic Paraplegia, Hereditary Autosomal Recessive Hereditary Spastic Paraplegia
Lateral Sclerosis	Primary Lateral Sclerosis Adult-Onset Primary Lateral Sclerosis Adult-Onset Pls Motor Neuron Disease Pls Pls - [Primary Lateral Sclerosis] Lateral Spinal Sclerosis Lateral Complete Paralysis Lateral Incomplete Paralysis Lateral Paralysis
Polyneuropathy	Polyneuropathies
Hereditary Spastic Paraplegia	Familial Spastic Paraplegia Hereditary Spastic Paraparesis Strumpell-Lorrain Disease Familial Spastic Paraparesis Hsp Spg Strümpell-Lorrain Disease Spastic Paraplegia, Hereditary French Settlement Disease Strumpell-Lorrain Syndrome Fsp Spastic Paraplegia, Familial Spastic Paraplegia Hereditary Spastic Paraplegia 3, Autosomal Dominant Spastic Paraparesis Hereditary Spastic Paralysis Familial Spastic Paralysis Hereditary Spastic Ataxia
Spastic Ataxia	Spax Ataxia, Spastic
Spastic Paraparesis
Mitochondrial Disease	Mitochondrial Diseases Mitochondrial Disorder
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
Spastic Paraplegia 20, Autosomal Recessive	Troyer Syndrome SPG20 Spastic Paraparesis, Childhood-Onset, With Distal Muscle Wasting Spastic Paraplegia, Autosomal Recessive, Troyer Type Autosomal Recessive Spastic Paraplegia Type 20 Autosomal Recessive Hereditary Spastic Paraplegia Spastic Paraplegia 20 Cross-Mckusick Syndrome Autosomal Recessive Spastic Paraplegia 20 Autosomal Recessive Spastic Paraplegia Troyer Type Childhood-Onset Spastic Paraparesis With Distal Muscle Wasting Hereditary Spastic Paraplegia 20 Spastic Paraplegia Type 20 Hereditary Spastic Paraplegia Childhood-Onset Spastic Paraparesis-Distal Muscle Wasting Syndrome Spastic Paraparesis Childhood-Onset With Distal Muscle Wasting Spastic Paraplegia Autosomal Recessive Troyer Type Trs Spastic Paraplegia Hereditary Autosomal Recessive Spastic Paraplegia, Hereditary
Spinocerebellar Ataxia 28	Spinocerebellar Ataxia Type 28 SCA28 Ataxia, Spinocerebellar, Type 28
Spastic Ataxia 5
Hypoparathyroidism	Hypoparathyroidism, Idiopathic Parathyroid, Underactivity Of Syndrome With Hypoparathyroidism Deficiency Of Parathyroid Hormone Parathyroid Gland Insufficiency Parathyroid Insufficiency Hypoparathyroidism Due To Impaired Pth - [Parathyroid Hormone] Secretion
Spasticity
Spastic Paraplegia 11, Autosomal Recessive	SPG11 Hereditary Spastic Paraplegia 11 Hsp-Tcc Autosomal Recessive Spastic Paraplegia Type 11 Nakamura-Osame Syndrome Spastic Paraplegia-Intellectual Disability-Thin Corpus Callosum Syndrome Spastic Paraplegia, Autosomal Recessive, With Mental Impairment And Thin Corpus Callosum Spastic Paraplegia, Autosomal Recessive, Complicated, With Thin Corpus Callosum Autosomal Recessive Spastic Paraplegia 11 Autosomal Recessive Spastic Paraplegia Complicated With Thin Corpus Callosum Autosomal Recessive Spastic Paraplegia With Mental Impairment And Thin Corpus Callosum Arhsp-Tcc Autosomal Recessive Spastic Paraplegia With Thinning Of Corpus Callosum Spastic Paraplegia Autosomal Recessive Complicated With Thin Corpus Callosum Spastic Paraplegia Autosomal Recessive With Mental Impairment And Thin Corpus Callosum Paraplegia, Spastic, Autosomal Recessive, Type 11 Nakamura Osame Syndrome
Hereditary Spastic Paraplegia 35	Autosomal Recessive Spastic Paraplegia Type 35 Spg35 Autosomal Recessive Spastic Paraplegia 35 Fahn Fatty Acid Hydroxylase-Associated Neurodegeneration Leukodystrophy, Dysmyelinating And Spastic Paraparesis With Or Without Dystonia
Spastic Paraplegia 3, Autosomal Dominant	SPG3A Strumpell Disease Hereditary Spastic Paraplegia 3a SPG3 Fsp1 Autosomal Dominant Spastic Paraplegia Type 3 Familial Spastic Paraplegia, Autosomal Dominant, 1 Spastic Paraplegia 3a, Autosomal Dominant Autosomal Dominant Familial Spastic Paraplegia 1 Autosomal Dominant Spastic Paraplegia 3 Spastic Paraplegia 3 Familial Spastic Paraplegia Autosomal Dominant 1 Strumpell-Lorrain Syndrome Paraplegia, Spastic, Autosomal Dominant, Type 3a Spastic Paraplegia, Hereditary
Secondary Hyperparathyroidism	Hyperparathyroidism Secondary Hyperparathyroidism, Secondary Secondary Hyperparathyroidism Nec
Spastic Paraplegia 13, Autosomal Dominant	SPG13 Hereditary Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia 13 Spastic Paraplegia 13 Autosomal Dominant Spastic Paraplegia Type 13 Spastic Paraplegia-13 Paraplegia, Spastic, Type 13
Spastic Paraplegia 8, Autosomal Dominant	SPG8 Hereditary Spastic Paraplegia 8 Autosomal Dominant Spastic Paraplegia Type 8 Autosomal Dominant Spastic Paraplegia 8 Paraplegia, Spastic, Autosomal Dominant, Type 8
Spastic Paraplegia 54, Autosomal Recessive	SPG54 Hereditary Spastic Paraplegia 54 Autosomal Recessive Spastic Paraplegia Type 54 Autosomal Recessive Spastic Paraplegia 54 Paraplegia, Spastic, Type 54, Autosomal Recessive
3-Methylglutaconic Aciduria, Type Iii	Optic Atrophy 3-Methylglutaconic Aciduria Type 3 Costeff Syndrome Mga3 Costeff Optic Atrophy Syndrome Optic Atrophy Plus Syndrome Infantile Optic Atrophy With Chorea And Spastic Paraplegia 3-Methylglutaconic Aciduria Type Iii Autosomal Recessive Optic Atrophy Plus Syndrome Autosomal Recessive Optic Atrophy Type 3 Opa3 Defect MGCA3 Mga, Type Iii Iraqi Jewish Optic Atrophy Plus Mga Type Iii Optic Atrophy, Infantile, With Chorea And Spastic Paraplegia Iraqi-Jewish 'Optic Atrophy Plus' Optic Atrophy 3, Autosomal Recessive Opa3, Autosomal Recessive Opa3-Related 3-Methylglutaconic Aciduria Iraqi-Jewish Optic Atrophy Plus Atrophy Of Optic Disc 3-Alpha Methylglutaconic Aciduria Type Iii Optic Atrophy 3 Optic Atrophy Infantile With Chorea And Spastic Paraplegia Autosomal Recessive Opa3 Autosomal Recessive Optic Atrophy 3 3-Methylglutaconic Aciduria 3 3-Alpha-Methylglutaconic Aciduria Type 3 Optic Atrophy 3 Autosomal Recessive Atrophy, Optic Atrophy, Optic, Plus Syndrome Optic Nerve Atrophy Primary Optic Atrophy Oa - [Optic Atrophy] Second Cranial Nerve Atrophy Second Cranium Nerve Atrophy
Spastic Paraplegia 18, Autosomal Recessive	SPG18 Idmdc Hereditary Spastic Paraplegia 18 Intellectual Disability, Motor Dysfunction, And Joint Contractures Autosomal Recessive Spastic Paraplegia Type 18 Autosomal Recessive Spastic Paraplegia 18 Intellectual Disability, Motor Dysfunction And Joint Contractures Spastic Paraplegia 18 Intellectual Disability Motor Dysfunction And Joint Contractures Paraplegia, Spastic, Type 18
Hereditary Spastic Paraplegia 30	Autosomal Spastic Paraplegia Type 30 Spg30 Autosomal Recessive Spastic Paraplegia 30
Spastic Paraplegia 77, Autosomal Recessive	SPG77 Hereditary Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia 77 Autosomal Recessive Spastic Paraplegia Type 77
Spastic Paraplegia 2, X-Linked	SPG2 Hereditary Spastic Paraplegia 2 Sppx2 Spastic Paraplegia Type 2 Spastic Paraplegia 2 Hereditary X-Linked Recessive Spastic Paraplegia X-Linked Spastic Paraplegia 2 X Linked Recessive Hereditary Spastic Paraplegia Spastic Gait Type 2 Spastic Paraparesis Type 2 X-Linked Spastic Paraplegia Type 2 Spastic Paraplegia Type 2, X-Linked Spastic Paraplegia-2 Paraplegia, Spastic, Type 2
Neuropathy, Hereditary Motor And Sensory, Type Via, With Optic Atrophy	Peripheral Neuropathy And Optic Atrophy Cmt6 Charcot-Marie-Tooth Disease Type 6 Hmsn Vi HMSN6A Hmsn Via Hmsn6 Cmt6a Charcot-Marie-Tooth Disease, Type 6 Hereditary Motor And Sensory Neuropathy Type 6 Hereditary Motor And Sensory Neuropathy Type Vi Neuropathy, Hereditary Motor And Sensory, Type 6a Neuropathy, Hereditary Motor And Sensory, Type Vi Charcot-Marie-Tooth Disease, Type 6a Hereditary Motor And Sensory Neuropathy Via Hmsn 6 Neuropathy, Hereditary Motor And Sensory, 6a, With Optic Atrophy Charcot-Marie-Tooth Disease 6 Charcot-Marie-Tooth Disease 6a Hereditary Motor And Sensory Neuropathy Type Via Hereditary Motor And Sensory Neuropathy Vi
Optic Atrophy 10 With Or Without Ataxia, Mental Retardation, And Seizures	OPA10 Optic Atrophy 10 With Or Without Ataxia, Intellectual Disability, And Seizures Optic Atrophy 10 Atrophy, Optic, Type 10, With/Without Ataxia, Mental Retardation, And Seizures
Kearns-Sayre Syndrome	Ophthalmoplegia Mitochondrial Cytopathy KSS Ophthalmoplegia, Pigmentary Degeneration Of Retina, And Cardiomyopathy Oculocraniosomatic Syndrome Chronic Progressive External Ophthalmoplegia With Myopathy Cpeo With Myopathy Total Ophthalmoplegia Ophthalmoplegia-Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged-Red Fibers Cpeo With Ragged-Red Fibers Oculomotor Paralysis Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication O Renal Tubulopathy, Diabetes Mellitus, And Cerebellar Ataxia Due To Duplication Of Mitochondrial Dna Proximal Tubulopathy, Diabetes Mellitus And Cerebellar Ataxia Cpeo With Ragged Red Fibers Ophthalmoplegia Plus Syndrome Ophthalmoplegia, Progressive External, With Ragged Red Fibers Kearns-Sayre Mitochondrial Cytopathy Mitochondrial Myopathies
Conjugate Gaze Palsy	Palsy Of Conjugate Gaze Supranuclear Ocular Palsy Gaze Palsy
Spastic Paraplegia 15, Autosomal Recessive	SPG15 Kjellin Syndrome Hereditary Spastic Paraplegia 15 Spastic Paraplegia And Retinal Degeneration Autosomal Recessive Spastic Paraplegia Type 15 Hereditary Spastic Paraparesis Type 15 Spastic Paraplegia-Retinal Degeneration Syndrome Autosomal Recessive Spastic Paraplegia 15
Spastic Paraplegia 44, Autosomal Recessive	SPG44 Hereditary Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia 44 Autosomal Recessive Spastic Paraplegia Type 44 Paraplegia, Spastic, Type 44, Autosomal Recessive
Motor Peripheral Neuropathy	Motor Neuritis Peripheral Motor Neuropathy Hereditary Motor And Sensory Neuropathy Hsmn Hsmn - Hereditary Sensory And Motor Neuropathy Neuropathic Muscular Atrophy Hereditary Sensory And Motor Neuropathy Hereditary Motor And Sensory Neuropathies
Optic Atrophy 9	OPA9 Atrophy, Optic, Type 9
Spastic Paraplegia 10, Autosomal Dominant	SPG10 Hereditary Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Type 10 Spastic Paraplegia 10 Spastic Paraplegia 10 With Or Without Peripheral Neuropathy Autosomal Dominant Spastic Paraplegia 10 Autosomal Dominant Spastic Paraplegia Spastic Paraplegia, Autosomal Dominant Paraplegia, Spastic, Autosomal Dominant, Type 10
Spastic Paraplegia 63, Autosomal Recessive	SPG63 Hereditary Spastic Paraplegia 63 Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia 63 Autosomal Recessive Spastic Paraplegia Type 63 Paraplegia, Spastic, Type 63, Autosomal Recessive
Spastic Paraplegia 78, Autosomal Recessive	SPG78 Autosomal Recessive Spastic Paraplegia Type 78 Hereditary Spastic Paraplegia 78 Spastic Paraplegia 78 Autosomal Recessive Doid:0112348
Spastic Paraplegia 6, Autosomal Dominant	SPG6 Fsp3 Hereditary Spastic Paraplegia 6 Autosomal Dominant Spastic Paraplegia Type 6 Spastic Paraplegia 6 Familial Spastic Paraplegia Autosomal Dominant 3 Familial Spastic Paraplegia, Autosomal Dominant, 3 Autosomal Dominant Familial Spastic Paraplegia Type 3 Autosomal Dominant Spastic Paraplegia 6 Spastic Paraplegia-6 Paraplegia, Spastic, Type 6
Spastic Paraplegia 43, Autosomal Recessive	SPG43 Hereditary Spastic Paraplegia 43 Autosomal Recessive Spastic Paraplegia Type 43 Autosomal Recessive Spastic Paraplegia 43 Paraplegia, Spastic, Type 43, Autosomal Recessive
Spastic Paraplegia 55, Autosomal Recessive	SPG55 Hereditary Spastic Paraplegia 55 Autosomal Recessive Spastic Paraplegia Type 55 Autosomal Recessive Spastic Paraplegia 55 Paraplegia, Spastic, Autosomal Recessive, Type 55
Masa Syndrome	L1 Syndrome Crash Syndrome X-Linked Hydrocephalus Syndrome SPG1 Gareis-Mason Syndrome Spastic Paraplegia 1, X-Linked Corpus Callosum Hypoplasia-Retardation-Adducted Thumbs-Spasticity-Hydrocephalus Syndrome L1cam Syndrome Spastic Paraplegia 1 Mental Retardation, Aphasia, Shuffling Gait, And Adducted Thumbs Clasped Thumb And Mental Retardation Thumb, Congenital Clasped, With Mental Retardation Adducted Thumb With Mental Retardation Hereditary Spastic Paraplegia 1 X-Linked Complicated Hereditary Spastic Paraplegia Type 1 X-Linked Corpus Callosum Agenesis X-Linked Spastic Paraplegia 1 L1 Disease X-Linked Intellectual Disability - Corpus Callosum Agenesis - Spastic Quadriparesis Adducted Thumb With Intellectual Disability Clasped Thumb And Intellectual Disability Intellectual Disability Aphasia Shuffling Gait Adducted Thumbs Thumb Congenital Clasped With Intellectual Disability X-Linked Intellectual Disability-Corpus Callosum Agenesis-Spastic Quadriparesis Syndrome Adducted Thumbs-Mental Retardation Syndrome Corpus Callosum Hypoplasia, Mental Retardation, Adducted Thumbs, Spastic Paraplegia, Hydrocephalus Syndrome Mental Retardation-Clasped Thumb Syndrome Intellectual Disability-Aphasia-Shuffling Gait-Adducted Thumbs Syndrome Spastic Paraplegia Type 1, X-Linked MASA Corpus Callosum Hypoplasia-Psychomotor Retardation, Adducted Thumbs-Spastic Paraparesis-Hydrocephalus Crash Masa Syndrome
Sensory Ataxic Neuropathy, Dysarthria, And Ophthalmoparesis	SANDO Mitochondrial Recessive Ataxia Syndrome Spinocerebellar Ataxia With Epilepsy Epilepsy, Progressive Myoclonic 5 Epm5 Miras SCAE Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions, Autosomal Recessive Autosomal Recessive Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Progressive Myoclonic Epilepsy Type 5 Pme Type 5 Progressive Myoclonus Epilepsy Type 5 Sensory Ataxic Neuropathy-Dysarthria-Ophthalmoparesis Syndrome Recessive Mitochondrial Ataxia Syndrome Sensory Ataxic Neuropathy Dysarthria And Ophthalmoparesis Mitochondrial Spinocerebellar Ataxia-Epilepsy Syndrome Mscae Sensory Ataxic Neuropathy With Mitochondrial Dna Deletions Autosomal Recessive Progressive Myoclonic Epilepsy With Sensory Ataxic Neuropathy Epilepsy, Progressive Myoclonic, 5 Ataxia Neuropathy Spectrum
Myasthenic Syndrome, Congenital, 4c, Associated With Acetylcholine Receptor Deficiency	Congenital Myasthenic Syndrome 4c CMS4C Cms Id Cms1d Congenital Myasthenic Syndrome Type Id Fim1 Myasthenic Syndrome, Congenital, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Type Id Cms1d, Formerly Cms Id, Formerly Myasthenia, Familial Infantile, 1, Formerly Fim1, Formerly Congenital Myasthenic Syndrome 4c Associated With Acetylcholine Receptor Deficiency Familial Infantile Myasthenia 1 Cms1e Cms-Achrd Cms Ie Congenital Myasthenic Syndrome Post-Synaptic Associated With Acetylcholine Receptor Deficiency Congenital Myasthenic Syndrome Type 1d Congenital Myasthenic Syndrome Type 1e Congenital Myasthenic Syndrome Type Ie Congenital Myasthenic Syndrome With Facial Dysmorphism Associated With Acetylcholine Receptor Deficiency Myasthenia, Familial Infantile, 1 Myasthenic Syndrome, Congenital, Type 4c, Associated With Acetylcholine Receptor Deficiency Myasthenic Syndrome, Congenital, Ie
Spastic Paraplegia 14, Autosomal Recessive	SPG14 Hereditary Spastic Paraplegia 14 Autosomal Recessive Spastic Paraplegia Type 14 Autosomal Recessive Spastic Paraplegia 14 Spastic Paraplegia 14
Behr Syndrome	BEHRS Abortive Cerebellar Ataxia Optic Atrophy, Infantile Hereditary, With Neurologic Abnormalities Optic Atrophy, Infantile Hereditary, Behr Complicated Form Of Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Mental Retardation, And Posterior Column Sensory Loss Obsolete: Behr Syndrome Optic Atrophy In Early Childhood, Associated With Ataxia, Spasticity, Intellectual Disability, And Posterior Column Sensory Loss Infantile Hereditary Optic Atrophy With Neurologic Abnormalities
Codas Syndrome	Cerebral, Ocular, Dental, Auricular, And Skeletal Anomalies Syndrome Cerebral, Ocular, Dental, Auricular, And Skeletal Syndrome Cerebro-Oculo-Dento-Auriculo-Skeletal Syndrome Cerebrooculodentoauriculoskeletal Syndrome CODASS Cerebral, Ocular, Dental, Auricular, Skeletal Syndrome
Spastic Paraplegia 74, Autosomal Recessive	SPG74 Hereditary Spastic Paraplegia 74 Autosomal Recessive Spastic Paraplegia 74 Autosomal Recessive Spastic Paraplegia Type 74 Paraplegia, Spastic, Autosomal Recessive, Type 74
Chronic Progressive External Ophthalmoplegia	Progressive External Ophthalmoplegia Cpeo Peo Ophthalmoplegia, Chronic Progressive External Ophthalmoplegia, External, Progressive, Chronic Graefe Disease Peo - [Progressive External Ophthalmoplegia] Ophthalmoplegia Plus Syndrome
Spastic Paraplegia 61, Autosomal Recessive	SPG61 Hereditary Spastic Paraplegia 61 Autosomal Recessive Spastic Paraplegia Type 61 Autosomal Recessive Spastic Paraplegia 61 Paraplegia, Spastic, Type 61, Autosomal Recessive
Spastic Paraplegia 42, Autosomal Dominant	SPG42 Hereditary Spastic Paraplegia 42 Autosomal Dominant Spastic Paraplegia Type 42 Autosomal Dominant Spastic Paraplegia 42 Paraplegia, Spastic, Type 42, Autosomal Dominant
Spinocerebellar Ataxia, Autosomal Recessive 14	Autosomal Recessive Spinocerebellar Ataxia 14 SCAR14 Sparca1 Cerebellar Ataxia, Autosomal Recessive, Spectrin-Associated, 1 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Ataxie Spinocerebelleuse A Debut Infantile Avec Retard Psychomoteur Autosomal Recessive Spinocerebellar Ataxia Type 14 Infantile-Onset Spinocerebellar Ataxia-Psychomotor Delay Syndrome Sparca Spectrin-Associated Autosomal Recessive Cerebellar Ataxia Type 1 Spinocerebellar Ataxia, Autosomal Recessive, 14 Spectrin-Associated Autosomal Recessive Cerebellar Ataxia 1 Ataxia, Spinocerebellar, Autosomal Recessive, Type 14
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Cardiomyopathy, Familial Hypertrophic, 16	Hypertrophic Cardiomyopathy 16 CMH16 Cardiomyopathy, Hypertrophic, 16 Cardiomyopathy Familial Hypertrophic 16 Cardiomyopathy, Familial Hypertrophic 16 Cardiomyopathy, Hypertrophic, Familial, Type 16
Neuronopathy, Distal Hereditary Motor, Type Va	Dsmav Distal Hereditary Motor Neuropathy Type V Young Adult-Onset Distal Hereditary Motor Neuropathy Neuronopathy, Distal Hereditary Motor, Type V Distal Hereditary Motor Neuronopathy Type 5 Dhmn5 Distal Spinal Muscular Atrophy Type 5 HMN5A Hmn5 Dhmn5a Dhmn Va Dsmava Spinal Muscular Atrophy, Distal, With Upper Limb Predominance Distal Hmn V Autosomal Recessive Distal Spinal Muscular Atrophy Type 5 Dsma5 Young Adult-Onset Dhmn Dhmn-V Hmn V Neuronopathy, Distal Hereditary Motor, Type 5a Hmn 5a Neuropathy, Distal Hereditary Motor, Type Va Spinal Muscular Atrophy, Distal, Type Va Spinal Muscular Atrophy, Distal, Type V Distal Spinal Muscular Atrophy Type V Distal Spinal Muscular Atrophy With Upper Limb Predominance Distal Hereditary Motor Neuronopathy Type 5a Distal Hmn Va Distal Spinal Muscular Atrophy Type Va Distal Hereditary Motor Neuropathy, Type V Distal Hereditary Motor Neuronopathy, Type V Distal Spinal Muscular Atrophy, Type V Spinal Muscular Atrophy, Distal Type V Distal Hereditary Motor Neuropathy Type 5 Neuronopathy, Distal Hereditary Motor, 5a Dhmn V Distal Hereditary Motor Neuronopathy Type Va Distal Hereditary Motor Neuropathy Type Va Dsma-V Hmn Va Spinal Muscular Atrophy Distal Type V Spinal Muscular Atrophy Distal Type Va Spinal Muscular Atrophy Distal With Upper Limb Predominance Neuropathy, Distal Hereditary Motor, Type V Neuropathy, Motor, Distal, Hereditary, Type Va
Spastic Paraplegia 79, Autosomal Recessive	Early-Onset Progressive Neurodegeneration-Blindness-Ataxia-Spasticity Syndrome SPG79 Neurodegeneration With Optic Atrophy, Childhood-Onset Ndgoa Hereditary Spastic Paraplegia 79 Spastic Paraplegia 79 Autosomal Recessive Doid:0112344 Neurodegeneration, With Optic Atrophy, Childhood-Onset
Infantile Cerebellar-Retinal Degeneration	ICRD Infantile Cerebellar Retinal Degeneration Degeneration, Cerebellar-Retinal, Infantile
Parkinson Disease 7, Autosomal Recessive Early-Onset	Autosomal Recessive Early-Onset Parkinson Disease 7 PARK7 Parkinson'S Disease 7 Autosomal Recessive Early-Onset Parkinson'S Disease 7 Parkinson Disease 7 Amyotrophic Lateral Sclerosis-Parkinsonism/Dementia Complex Type 2 Autosomal Recessive Early-Onset Parkinson Disease Type 7 Parkinson Disease, Type 7
Cardiomyopathy, Familial Hypertrophic, 18	Hypertrophic Cardiomyopathy 18 CMH18 Cardiomyopathy, Hypertrophic, 18 Cardiomyopathy Familial Hypertrophic 18 Cardiomyopathy, Familial Hypertrophic 18 Cardiomyopathy, Hypertrophic, Familial, Type 18
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Spinocerebellar Ataxia, Autosomal Recessive 8	Arca1 Autosomal Recessive Cerebellar Ataxia Type 1 SCAR8 Autosomal Recessive Spinocerebellar Ataxia 8 Autosomal Recessive Ataxia, Beauce Type Recessive Ataxia Of Beauce Syne1-Related Autosomal Recessive Cerebellar Ataxia Ataxia, Recessive, Of Beauce Cerebellar Ataxia, Autosomal Recessive, Type 1 Spinocerebellar Ataxia Autosomal Recessive 8 Autosomal Recessive Ataxia Beauce Type Spinocerebellar Ataxia, Autosomal Recessive, 8 Ataxia Recessive Of Beauce Ataxia, Spinocerebellar, Autosomal Recessive, Type 8
Nescav Syndrome	NESCAVS Neurodegeneration And Spasticity With Or Without Cerebellar Atrophy Or Cortical Visual Impairment Mrd9 Intellectual Disability, Autosomal Dominant 9 Mental Retardation, Autosomal Dominant 9, Formerly Mrd9, Formerly Autosomal Dominant Intellectual Disability 9 Autosomal Dominant Non-Syndromic Intellectual Disability 9 Mental Retardation, Autosomal Dominant 9
Optic Atrophy 3, Autosomal Dominant	Optic Atrophy 3 OPA3 Autosomal Dominant Optic Atrophy And Cataract Optic Atrophy And Cataract, Autosomal Dominant Autosomal Dominant Optic Atrophy Type 3 Optic Atrophy 3 With Cataract Opa3, Autosomal Dominant Adoac Optic Atrophy, Cataract, And Neurologic Disorder Autosomal Dominant Optic Atrophy 3 Optic Atrophy Type 3 Optic Atrophy 3 Autosomal Dominant Atrophy, Optic, Type 3, Autosomal Dominant 3-Methylglutaconic Aciduria Type 3
Spastic Paraplegia 64, Autosomal Recessive	SPG64 Hereditary Spastic Paraplegia 64 Autosomal Recessive Spastic Paraplegia Type 64 Autosomal Recessive Spastic Paraplegia 64 Paraplegia, Spastic, Type 64, Autosomal Recessive
Cranial Nerve Disease	Cranial Nerve Disorder Disorder Of Cranial Nerve Cranial Nerve Diseases
Cardiomyopathy, Familial Hypertrophic, 17	Hypertrophic Cardiomyopathy 17 CMH17 Cardiomyopathy, Hypertrophic, 17 Cardiomyopathy Familial Hypertrophic 17 Cardiomyopathy, Familial Hypertrophic 17 Cardiomyopathy, Hypertrophic, Familial, Type 17
Giant Axonal Neuropathy 1, Autosomal Recessive	Giant Axonal Neuropathy Giant Axonal Neuropathy 1 Gan GAN1 Giant Axonal Neuropathy-1 Neuropathy, Giant Axonal Giant Axonal Disease Neuropathy, Axonal, Giant, Type 1
Mitochondrial Complex Iii Deficiency, Nuclear Type 2	Mitochondrial Complex Iii Deficiency Nuclear Type 2 MC3DN2 Mitochondrial Complex Ii Deficiency, Nuclear Type 3 MC2DN3 Mitochondrial Complex 2 Deficiency, Nuclear Type 3 Mitochondrial Complex Iii Deficiency, Nuclear 2
Spastic Paraplegia 45, Autosomal Recessive	SPG45 Hereditary Spastic Paraplegia 45 Autosomal Recessive Spastic Paraplegia Type 45 Autosomal Recessive Spastic Paraplegia Type 65 Spg65 Autosomal Recessive Spastic Paraplegia 45 Paraplegia, Spastic, Type 45, Autosomal Recessive
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Optic Nerve Disease	Optic Neuropathy Disorder Of The Second Nerve Optic Nerve Disorder Optic Nerve Abnormality Of The Optic Nerve Optic Nerve Disorders Neuropathy, Optic Disorder Of The Optic Nerve
Kbg Syndrome	KBGS Macrodontia, Mental Retardation, Characteristic Facies, Short Stature, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Intellectual Disability, And Skeletal Anomalies Short Stature, Characteristic Facies, Macrodontia, Mental Retardation, And Skeletal Anomalies Short Stature-Characteristic Facies-Mental Retardation-Macrodontia-Skeletal Anomalies Syndrome Short Stature-Facial And Skeletal Anomalies-Intellectual Disability-Macrodontia Syndrome
3-Methylglutaconic Aciduria	3-Methyl Glutaconic Aciduria
Mitochondrial Dna Depletion Syndrome 7	Ohaha Syndrome Infantile Onset Spinocerebellar Ataxia Iosca Infantile-Onset Spinocerebellar Ataxia Spinocerebellar Ataxia 8 MTDPS7 Ophthalmoplegia, Hypotonia, Ataxia, Hypacusis, And Athetosis Ophthalmoplegia-Hypotonia-Ataxia-Hypoacusis-Athetosis Syndrome Sca8 Spinocerebellar Ataxia Infantile With Sensory Neuropathy Spinocerebellar Ataxia, Infantile-Onset Ophthalmoplegia, Hypotonia, Ataxia, Hypoacusis, And Athetosis Spinocerebellar Ataxia, Infantile, With Sensory Neuropathy Spinocerebellar Ataxia 8, Formerly Sca8, Formerly Iosca, Mitochondrial Dna Depletion Syndrome 7 Ophthalmoplegia - Hypotonia - Ataxia - Hypoacusis - Athetosis Mitochondrial Dna Depletion Syndrome, Hepatocerebrorenal Form Mtdna Depletion Syndrome, Hepatocerebrorenal Form Mitochondrial Dna Depletion Syndrome 7 Hepatocerebral Type Ophthalmoplegia Hypotonia Ataxia Hypoacusis And Athetosis Pure Spinocerebellar Ataxia Japanese Type Sca4 Pure Japanese Type Spinocerebellar Ataxia Infantile-Onset Mitochondrial Dna Depletion Syndrome , Type 7
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Leber Hereditary Optic Neuropathy, Modifier Of	Leber Optic Atrophy Leber Hereditary Optic Neuropathy LHON Leber'S Hereditary Optic Neuropathy Leber Optic Atrophy, Susceptibility To Leber'S Optic Atrophy LOAM Loas Leber'S Disease Leber'S Optic Neuropathy Optic Atrophy, Hereditary, Leber Lhon, Modifier Of Optic Atrophy, Leber Type Hereditary Optic Neuroretinopathy Leber Hereditary Optic Atrophy Loa Optic Atrophy Leber Type Leber Hereditary Optic Neuropathy, Modifier Leber Hereditary Optic Neuropathy Susceptibility Modifier Of Leber Hereditary Optic Neuropathy Lebers Hereditary Optic Neuropathy Leber Congenital Amaurosis
Autosomal Recessive Cerebellar Ataxia	Arca
Mitochondrial Myopathy	Mitochondrial Myopathies Mitochondrial Cytopathy Myopathies In Mitochondrial Disorders
Perrault Syndrome	Gonadal Dysgenesis, Xx Type, With Deafness Ovarian Dysgenesis With Sensorineural Deafness Gonadal Dysgenesis, Xx Type Gonadal Dysgenesis With Auditory Dysfunction, Autosomal Recessive Inheritance Gonadal Dysgenesis With Sensorineural Deafness, Autosomal Recessive Inheritance Xx Gonodal Dysgenesis-Deafness Syndrome Xx Gonodal Dysgenesis-Hearing Loss Syndrome Gonadal Dysgenesis Xx Type Deafness
Charcot-Marie-Tooth Disease, Axonal, Type 2e	Charcot-Marie-Tooth Disease Type 2 CMT2E CMT2S CMT2Y Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease Axonal Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2s Charcot-Marie-Tooth Disease, Type 2e Hereditary Motor And Sensory Neuropathy Type 2 Charcot-Marie-Tooth Neuropathy, Type 2s Charcot-Marie-Tooth Disease, Axonal, Autosomal Recessive, Type 2s Charcot-Marie-Tooth Disease, Axonal, Type 2y Charcot-Marie-Tooth Disease, Axonal, Autosomal Dominant, Type 2y Charcot-Marie-Tooth Neuropathy, Type 2y Charcot-Marie-Tooth Disease, Type 2y Autosomal Dominant Charcot-Marie-Tooth Disease Type 2e Charcot-Marie-Tooth Neuropathy Type 2e Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Due To Vcp Mutation Cmt2 Due To Vcp Mutation Charcot-Marie-Tooth Disease Type 2s Autosomal Dominant Charcot-Marie-Tooth Disease Type 2 Autosomal Dominant Axonal Charcot-Marie-Tooth Disease Cmt2 Charcot-Marie-Tooth Neuropathy, Type 2e Hereditary Motor And Sensory Neuropathy Guadalajara Neuronal Type Hereditary Motor And Sensory Neuropathy Okinawa Type Autosomal Dominant Axonal Charcot-Marie-Tooth Type 2y Charcot-Marie-Tooth Neuropathy Type 2y Autosomal Recessive Axonal Charcot-Marie-Tooth Type 2s Charcot-Marie-Tooth Neuropathy Type 2s Charcot-Marie-Tooth Type 2 Autosomal Dominant Charcot-Marie-Tooth Disease Type 2y Charcot-Marie-Tooth Disease 2e Charcot-Marie-Tooth Disease Axonal Type 2e Charcot-Marie-Tooth Disease Neuronal Type 2e Charcot-Marie-Tooth Disease 2s Charcot-Marie-Tooth Neuropathy Axonal Type 2s Charcot-Marie-Tooth Disease 2y Charcot-Marie-Tooth Disease, Type 2 Hereditary Motor And Sensory-Neuropathy Type Ii
Early Myoclonic Encephalopathy	Myoclonic Epilepsy Myoclonic Seizure Epilepsies, Myoclonic Epileptic Seizures - Myoclonic Epileptic Seizures, Myoclonic Myoclonia Epileptica Myoclonic Seizure Disorder Early Myoclonic Encephalopathy With Suppression-Bursts
Mitochondrial Dna Depletion Syndrome 4a	Alpers Syndrome Alpers-Huttenlocher Syndrome Alpers Progressive Infantile Poliodystrophy Alpers Diffuse Degeneration Of Cerebral Gray Matter With Hepatic Cirrhosis Alpers Disease Progressive Sclerosing Poliodystrophy Pndc Diffuse Cerebral Sclerosis Of Schilder MTDPS4A Neuronal Degeneration Of Childhood With Liver Disease, Progressive Alper'S Syndrome Alpers' Disease Or Gray-Matter Degeneration Diffuse Cerebral Degeneration In Infancy Infantile Poliodystrophy Poliodystrophia Cerebri Progressiva Progressive Cerebral Poliodystrophy Alpers' Disease Alpers Progressive Sclerosing Poliodystrophy Progressive Neuronal Degeneration Of Childhood With Liver Disease Ahs Mitochondrial Dna Depletion Syndrome 4a Alpers Type Neuronal Degeneration Of Childhood With Liver Disease Progressive
Ptosis	Blepharoptosis Drooping Eyelid Droopy Eyelid Ptosis Of Eyelid Paralysis Of Levator Palpebrae Superioris
Leigh Syndrome	Leigh Disease Infantile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Iv Deficiency LS Sne Leigh'S Disease Leigh Syndrome Due To Mitochondrial Complex I Deficiency Necrotizing Encephalopathy, Infantile Subacute, Of Leigh Subacute Necrotizing Encephalomyelopathy Necrotizing Encephalopathy Infantile Subacute Of Leigh Leigh Syndrome Due To Mitochondrial Complex Iii Deficiency Infantile Necrotizing Encephalomyelopathy Juvenile Subacute Necrotizing Encephalomyelopathy Leigh'S Necrotizing Encephalopathy Subacute Necrotizing Encephalopathy Juvenile Subacute Necrotizing Encephalopathy Leigh Syndrome Due To Mitochondrial Complex Ii Deficiency Leigh Syndrome Due To Mitochondrial Complex V Deficiency Encephalopathy, Subacute Necrotizing, Infantile Encephalopathy, Subacute Necrotizing, Juvenile Maternally Inherited Leigh Syndrome Subacute Necrotising Encephalomyelopathy Subacute Necrotising Encephalopathy
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Charcot-Marie-Tooth Disease	Cmt Hmsn Hereditary Motor And Sensory Neuropathy Pma Cmt - Charcot-Marie-Tooth Disease Charcot Marie Tooth Disease Charcot-Marie-Tooth Hereditary Neuropathy Charcot-Marie-Tooth Syndrome Peroneal Muscular Atrophy Hereditary Motor And Sensory Neuropathies

Diseases	Alias
Waldenstroem'S Macroglobulinemia	Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma Waldenstroem'S Macroglobulinemia Waldenstroem'S Macroglobulinemia Macroglobulinemia Of Waldenstrom Lymphoplasmacytic Lymphoma With Igm Gammopathy Lymphoplasmacytic Lymphoma

Related Agents

Pre-clinical Phase

Pre-clinical Phase

Bioactive Molecules (3)

Cat. No.	Product Name	Effect	Purity	Rare Diseases
HY-RS13663	SPG7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS21436	Spg7 Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS27954	Spg7 Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SPG7	VGNC	VGNC:46736
Felis catus	SPG7	VGNC	VGNC:97642
Mus musculus	SPG7	MGD	MGI:2385906
Bos taurus	SPG7	VGNC	VGNC:35209
Macaca mulatta	SPG7	VGNC	VGNC:99592
Others	SPG7	NCBI