SPAST - spastin Gene

Also Known as FSP2; SPG4; ADPSP

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6683

About SPAST

Cytogenetic location: 2p22.3 Genomic coordinates (GRCh38): 2:32,063,556-32,157,637 (from NCBI)

This gene has 20 transcripts (splice variants), 236 orthologues, 9 paralogues and is associated with 4 phenotypes. Ubiquitous expression in brain (RPKM 7.7), testis (RPKM 5.2) and 25 other tissues.

Summary

This gene encodes a member of the AAA (ATPases associated with a variety of cellular activities) protein 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. The use of alternative translational initiation sites in this gene results in a single transcript variant that can produce isoforms that differ in the length of their N-terminus and which thereby differ in the efficiency of their export from the nucleus to the cytoplasm. In addition, alternative splicing results in multiple transcript variants that encode isoforms that differ in Other protein regions as well. One isoform of this gene has been shown to be a microtubule-severing enzyme that regulates microtubule abundance, mobility, and plus-end distribution. Mutations in this gene cause the most frequent form of autosomal dominant spastic paraplegia 4. [provided by RefSeq, May 2018]

SPAST Products (5)

mRNA	Protein	Name
NM_001363823.2	NP_001350752.1	spastin isoform 3
NM_001363875.2	NP_001350804.1	spastin isoform 4
NM_001377959.1	NP_001364888.1	spastin isoform 5
NM_014946.4	NP_055761.2	spastin isoform 1
NM_199436.2	NP_955468.1	spastin isoform 2

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables alpha-tubulin binding	IPI IPI: Inferred from physical interaction	17389232	GOA
enables beta-tubulin binding	IDA IDA: Inferred from direct assay	26875866	GOA
enables beta-tubulin binding	IPI IPI: Inferred from physical interaction	17389232	GOA
enables microtubule binding	IDA IDA: Inferred from direct assay	15716377	GOA
enables microtubule severing ATPase activity	IDA IDA: Inferred from direct assay	15716377	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	16815977	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in cytokinetic process	IMP IMP: Inferred from mutant phenotype	19000169	GOA
involved in endoplasmic reticulum to Golgi vesicle-mediated transport	IMP IMP: Inferred from mutant phenotype	19000169	GOA
involved in exit from mitosis	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in membrane fission	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in microtubule bundle formation	IDA IDA: Inferred from direct assay	16219033	GOA
involved in microtubule severing	IDA IDA: Inferred from direct assay	15716377	GOA
involved in microtubule severing	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in mitotic cytokinesis	IMP IMP: Inferred from mutant phenotype	21310966	GOA
involved in mitotic spindle disassembly	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in nuclear membrane reassembly	IMP IMP: Inferred from mutant phenotype	26040712	GOA
involved in positive regulation of cytokinesis	IMP IMP: Inferred from mutant phenotype	18997780	GOA
involved in protein hexamerization	IDA IDA: Inferred from direct assay	17389232	GOA
involved in protein homooligomerization	IDA IDA: Inferred from direct assay	17389232	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axon	IDA IDA: Inferred from direct assay	15269182	GOA
located in centrosome	IDA IDA: Inferred from direct assay	25390646	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	16026783	GOA
located in cytoplasmic vesicle	IDA IDA: Inferred from direct assay	21545838	GOA
colocalizes with endoplasmic reticulum	IDA IDA: Inferred from direct assay	19000169	GOA
located in endoplasmic reticulum tubular network	IDA IDA: Inferred from direct assay	23969831	GOA
colocalizes with endosome	IDA IDA: Inferred from direct assay	19000169	GOA
colocalizes with microtubule cytoskeleton	IDA IDA: Inferred from direct assay	15716377	GOA
colocalizes with midbody	IDA IDA: Inferred from direct assay	19000169	GOA
located in midbody	IDA IDA: Inferred from direct assay	15269182	GOA
located in midbody	IMP IMP: Inferred from mutant phenotype	18997780	GOA
located in nuclear membrane	IDA IDA: Inferred from direct assay	26040712	GOA
located in nuclear membrane	IMP IMP: Inferred from mutant phenotype	26040712	GOA
located in nucleus	IDA IDA: Inferred from direct assay	15147984	GOA
located in perinuclear region of cytoplasm	IDA IDA: Inferred from direct assay	15147984	GOA
located in spindle pole	IDA IDA: Inferred from direct assay	15269182	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

SPAST Protein Structure

MIT

AAA

0
100
200
300
400
500
616 a.a.

Protein Preferred Names	Protein Names
spastin	spastic paraplegia 4 (autosomal dominant

SPAST Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SPAST	Q9UBP0	ATL1	Homo sapiens	Q8WXF7-1	Pull Down	16815977
Intra	SPAST	Q9UBP0	ATL1	Homo sapiens	Q8WXF7-1	Anti Tag CoIP	16815977
Intra	SPAST	Q9UBP0	ATL1	Homo sapiens	Q8WXF7-1	Y2H	16815977
Intra	SPAST	Q9UBP0	FBXL17	Homo sapiens	Q9UF56	Anti Tag CoIP	35869491
Intra	SPAST	Q9UBP0	FBXL17	Homo sapiens	Q9UF56	Anti Bait CoIP	35869491

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spastic Paraplegia 4, Autosomal Dominant	SPG4 Hereditary Spastic Paraplegia 4 Fsp2 Autosomal Dominant Spastic Paraplegia Type 4 Familial Spastic Paraplegia, Autosomal Dominant, 2 Autosomal Dominant Spastic Paraplegia 4 Familial Spastic Paraplegia Autosomal Dominant 2 Paraplegia, Spastic, Autosomal Dominant, Type 4
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 Paraparesis
Spasticity
Spastic Diplegia	Diplegic Infantile Cerebral Palsy Little'S Disease Cerebral Palsy Cerebral Spastic Infantile Paralysis Infantile Diplegic Cerebral Palsy Infantile Spastic Cerebral Palsy Littles Disease Spastic Cerebral Palsy
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Spastic Paraplegia 4	Spg4 Spastic Paraplegia Type 4 Spast-Hsp Autosomal Dominant Spastic Paraplegia 4 Fsp2 Familial Spastic Paraplegia Autosomal Dominant 2 Spastic Paraplegia 4, Autosomal Dominant
Paraplegia	Paraplegia, Lower Severe Or Complete Loss Of Motor Function In The Lower Extremities And Lower Portions Of The Trunk
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
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
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 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
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
Dementia	Dementias Presenile Dementia Alzheimer Type Dementia Alzheimer Sclerosis Alzheimer Disease Dementia Alzheimer Dementia Primary Degenerative Alzheimer Type Dementia End Stage Alzheimer'S Dementia Alzheimer'S Type Atypical Dementia Alzheimer Type Presenile Dementia Early Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 2 Dementia In Alzheimer Disease With Early Onset Early Onset Alzheimer Type Dementia, Uncomplicated Primary Degenerative Alzheimer Type Dementia, Early Onset Primary Degenerative Alzheimer Type Dementia, Presenile Onset, Uncomplicated Alzheimer Disease Dementia With Early Onset Presenile Sclerosis Presenile Brain Sclerosis Presenile Alzheimer Brain Sclerosis Late Onset Alzheimer Dementia Dementia In Alzheimer Disease Type 1 Dementia In Alzheimer Disease With Late Onset Primary Degenerative Alzheimer Type Dementia, Late Onset Sdat - [Senile Dementia, Alzheimer Type] Alzheimer Disease Dementia With Late Onset Late Onset Alzheimer Brain Sclerosis Senile Alzheimer Brain Disease Senile Alzheimer Brain Sclerosis Senile Primary Degenerative Alzheimer Type Dementia Senile Dementia Of The Alzheimer Type Arteriosclerotic Dementia Strategic-Infarct Dementia Post Stroke Dementia Vascular Cognitive Impairment Vascular Dementia Dementia Of The Lewy Body Type Dementia With Lewy Bodies Sdlt - [Senile Dementia Of The Lewy Body Type] Senile Dementia Of The Lewy Body Type Alcohol-Related Dementia Alcoholic Dementia Nos Alcohol-Induced Dementia Alcoholic Brain Syndrome Chronic Alcoholic Brain Syndrome Alcohol Dementia Late Onset Alcoholic Psychosis Residual And Late-Onset Alcohol-Induced Psychotic Disorder Mental And Behavioural Disorders Due To Use Of Sedatives Or Hypnotics, Residual And Late-Onset Psychotic Disorder Late-Onset Psychoactive Substance-Induced Psychotic Disorder Inhalant Dementia Volatile Solvents Dementia Dementia In Paralysis Agitans Pdd - [Parkinson Disease Dementia] Dementia Syndrome Of Parkinson Disease Dementia In Parkinson Disease Parkinson Related Dementia Dementia In Huntington Chorea Hiv - [Human Immunodeficiency Virus] Dementia Hiv- [Human Immunodeficiency Virus] Associated Cognitive Motor Complex Hiv- [Human Immunodeficiency Virus] Associated Dementia Complex Aids - [Acquired Immunodeficiency Syndrome] Dementia Complex Aids Related Dementia Dementia Due To Niacin Deficiency
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
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 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
Spastic Paraplegia 14, Autosomal Recessive	SPG14 Hereditary Spastic Paraplegia 14 Autosomal Recessive Spastic Paraplegia Type 14 Autosomal Recessive Spastic Paraplegia 14 Spastic Paraplegia 14
Hereditary Spastic Paraplegia 30	Autosomal Spastic Paraplegia Type 30 Spg30 Autosomal Recessive Spastic Paraplegia 30
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
Spastic Paraplegia 41, Autosomal Dominant	SPG41 Hereditary Spastic Paraplegia 41 Autosomal Dominant Spastic Paraplegia Type 41 Autosomal Dominant Spastic Paraplegia 41
Spastic Paraplegia 31, Autosomal Dominant	SPG31 Hereditary Spastic Paraplegia 31 Spastic Paraplegia 31 Autosomal Dominant Spastic Paraplegia 31 Autosomal Dominant Spastic Paraplegia Type 31 Spastic Paraplegia Type 31 Paraplegia, Spastic, Autosomal Dominant, Type 31
Spastic Paraplegia 80, Autosomal Dominant	SPG80 Hereditary Spastic Paraplegia 80 Spastic Paraplegia 80 Autosomal Dominant Doid:0112341
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 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
Spastic Paraplegia 34, X-Linked	SPG34 Hereditary Spastic Paraplegia 34 X-Linked Spastic Paraplegia Type 34 X-Linked Spastic Paraplegia 34
Spastic Paraplegia 48, Autosomal Recessive	SPG48 Hereditary Spastic Paraplegia 48 Autosomal Recessive Spastic Paraplegia Type 48 Autosomal Recessive Spastic Paraplegia 48 Paraplegia, Spastic, Type 48, Autosomal Recessive
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 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
Spastic Paraplegia 73, Autosomal Dominant	SPG73 Hereditary Spastic Paraplegia 73 Autosomal Dominant Spastic Paraplegia Type 73 Autosomal Dominant Spastic Paraplegia 73 Paraplegia, Spastic, Autosomal Dominant, Type 73
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
Spastic Paraplegia 12, Autosomal Dominant	SPG12 Hereditary Spastic Paraplegia 12 Autosomal Dominant Spastic Paraplegia Type 12 Autosomal Dominant Spastic Paraplegia 12 Spastic Paraplegia 12 Spastic Paraplegia-12 Paraplegia, Spastic, Autosomal Dominant, Type 12
Epilepsy	Epilepsy Syndrome Epileptic Syndrome Epilepsies Symptomatic Epilepsies Post Traumatic Epilepsy Traumatic Epilepsy Traumatic Epileptic Epilepsy Due To Hippocampal Sclerosis Epilepsy With Ammon'S Horn Sclerosis Epilepsy Due To Cortical Dysplasia Epilepsy Due To Neuronal Migration Disorders
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 26, Autosomal Recessive	SPG26 Hereditary Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia Type 26 Gm2 Synthase Deficiency Spastic Paraplegia 26 Autosomal Recessive Spastic Paraplegia 26 Paraplegia, Spastic, Autosomal Recessive, Type 26
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 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
Spastic Paraplegia 52, Autosomal Recessive	SPG52 Hereditary Spastic Paraplegia 52 Cpsq6 Cerebral Palsy, Spastic Quadriplegic, 6, Formerly Cpsq6, Formerly Autosomal Recessive Spastic Paraplegia 52 Spastic Quadriplegic Cerebral Palsy 6 Cerebral Palsy, Spastic Quadriplegic 6
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
Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant 1	PEOA1 Autosomal Dominant Progressive External Ophthalmoplegia 1 Progressive External Ophthalmoplegia With Mitochondrial Dna Deletions, Autosomal Dominant, 1 Chronic Progressive External Ophthalmoplegia Progressive External Ophthalmoplegia, Autosomal Dominant 1 Cpeo Graefe Disease Mitochondrial Ocular Myopathy Ocular Myopathy Of Von Graefe-Fuchs Progressive External Ophthalmoplegia Autosomal Dominant Ophthalmoplegia, External, Progressive, With Mitochondrial Dna Deletions, Autosomal Dominant, Type 1 Kearns-Sayre Syndrome
Spastic Paraplegia 19, Autosomal Dominant	SPG19 Hereditary Spastic Paraplegia 19 Autosomal Dominant Spastic Paraplegia Type 19 Autosomal Dominant Spastic Paraplegia 19 Spastic Paraplegia 19 Spastic Paraplegia-19
Spastic Paraplegia 17, Autosomal Dominant	Silver Syndrome SPG17 Silver Spastic Paraplegia Syndrome Spastic Paraplegia With Amyotrophy Of Hands And Feet Hereditary Spastic Paraplegia 17 Autosomal Dominant Spastic Paraplegia Type 17 Spastic Paraplegia 17 Spastic Paraplegia-Amyotrophy Of Hands And Feet Autosomal Dominant Spastic Paraplegia 17 Dhmn5b Distal Hereditary Motor Neuropathy Type 5b Paraplegia, Spastic, Autosomal Dominant, Type 17 Russell-Silver Syndrome Neuronopathy, Distal Hereditary Motor, Type Vb
Spastic Paraplegia 53, Autosomal Recessive	SPG53 Hereditary Spastic Paraplegia 53 Autosomal Recessive Spastic Paraplegia Type 53 Autosomal Recessive Spastic Paraplegia 53 Paraplegia, Spastic, Type 53, Autosomal Recessive
Spastic Paraplegia 57, Autosomal Recessive	SPG57 Hereditary Spastic Paraplegia 57 Autosomal Recessive Spastic Paraplegia Type 57 Autosomal Recessive Spastic Paraplegia 57 Spastic Paraplegia Due To Partial Tfg Deficiency Paraplegia, Spastic, Type 57, Autosomal Recessive
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
Hereditary Spastic Paraplegia 49	Autosomal Recessive Spastic Paraplegia Type 49 Autosomal Recessive Spastic Paraplegia 49 Spg49 Paraplegia, Spastic, Type 49, Autosomal Recessive
Spastic Paraplegia 75, Autosomal Recessive	SPG75 Hereditary Spastic Paraplegia 75 Autosomal Recessive Spastic Paraplegia Type 75 Autosomal Recessive Spastic Paraplegia 75
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 62, Autosomal Recessive	SPG62 Hereditary Spastic Paraplegia 62 Autosomal Recessive Spastic Paraplegia Type 62 Spastic Paraplegia 62 Autosomal Recessive Spastic Paraplegia 62 Paraplegia, Spastic, Type 62
Neuropathy, Hereditary Sensory, Type Id	HSN1D Hereditary Sensory Neuropathy Type 1d Neuropathy, Hereditary Sensory, Type 1d Neuropathy, Hereditary Sensory, 1d Hereditary Sensory Neuropathy Type Id Neuropathy, Sensory, Hereditary, Type Id
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 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
Friedreich Ataxia	Friedreich Ataxia 1 FRDA Friedreich Ataxia With Retained Reflexes Frda1 Fa Friedreich'S Ataxia Hereditary Spinal Ataxia Fa1 Friedreich'S Tabes Hereditary Spinal Sclerosis Spinocerebellar Ataxia, Friedreich Friedreich Spinocerebellar Ataxia Friedrich'S Ataxia
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
Spastic Cerebral Palsy	Palsy, Cerebral, Spastic Infantile Hemiplegia Nos Postnatal Infantile Hemiplegia Nos Congenital Spastic Hemiplegia Spastic Hemiplegic Cerebral Palsy Congenital Hemiplegia Nos Hemiplegic Cerebral Palsy Hemiplegic Infantile Cerebral Palsy
Spastic Paraplegia 9a, Autosomal Dominant	Hereditary Spastic Paraplegia 9a SPG9A Cataracts With Motor Neuronopathy, Short Stature, And Skeletal Abnormalities Ad-Spg9a Spastic Paraparesis-Amyopathy-Cataracts-Gastroesophageal Reflux Syndrome Spastic Paraparesis With Amyotrophy, Cataracts, And Gastroesophageal Reflux Autosomal Dominant Complex Spastic Paraplegia Type 9a Autosomal Dominant Spastic Paraplegia 9a Cataracts Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Cataracts With Motor Neuronopathy, Short Stature And Skeletal Abnormalities Spastic Paraparesis With Amyopathy, Cataracts And Gastroesophageal Reflux Autosomal Dominant Spastic Paraplegia Type 9a Cataracts-Motor Neuropathy-Short Stature-Skeletal Anomalies Syndrome Spastic Paraparesis With Amyopathy, Cataracts, And Gastroesophageal Reflux Spastic Paraplegia 9, Autosomal Dominant
Spastic Paraplegia 50, Autosomal Recessive	Hereditary Spastic Paraplegia 50 SPG50 Ap-4 Deficiency Syndrome Ap-4-Associated Hereditary Spastic Paraplegia Adaptor Protein Complex 4 Deficiency Cerebral Palsy, Spastic Quadriplegic, 3, Formerly Cpsq3, Formerly Autosomal Recessive Spastic Paraplegia 50 Cpsq3 Spastic Quadriplegic Cerebral Palsy 3 Ap-4 Deficiency Ap-4-Associated Hsp Paraplegia, Spastic, Autosomal Recessive, Type 50 Spastic Paraplegia-50, Autosomal Recessive
Pontocerebellar Hypoplasia, Type 2e	Pontocerebellar Hypoplasia Type 2 Pontocerebellar Hypoplasia Type 2e Pch2 PCH2E Progressive Microcephaly From Birth Extrapyramidal Dyskinesia Chorea Epilepsy Pontocerebellar Hypoplasia 2e Pcca2 Progressive Cerebello-Cerebral Atrophy Type 2 Doid:0112328 Hypoplasia, Pontocerebellar, Type 2e Pontocerebellar Hypoplasia, Type 2d Pontocerebellar Hypoplasia Type 2a
Neurogenic Bowel
Motor Neuron Disease	Anterior Horn Cell Disease Motor Neuron Diseases Mnd - [Motor Neurone Disease] Lou Gehrig Disease Creeping Palsy Creeping Paralysis Bulbar Motor Neuron Disease Bulbar Syndrome Anterior Horn Cell Disorder Hereditary Motor Neuron Disease
Amyotrophic Lateral Sclerosis 1	Amyotrophic Lateral Sclerosis ALS Lou Gehrig Disease Amyotrophic Lateral Sclerosis Type 1 Charcot Disease ALS1 Amyotrophic Lateral Sclerosis, Susceptibility To Fals Lou Gehrig'S Disease Mnd Motor Neuron Disease Familial Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis 1, Familial Amyotrophic Lateral Sclerosis 1, Autosomal Dominant Motor Neuron Disease, Bulbar Motor Neurone Disease Amyotrophic Lateral Sclerosis With Dementia Dementia With Amyotrophic Lateral Sclerosis Motor Neuron Disease, Amyotrophic Lateral Sclerosis Sclerosis, Lateral, Amyotrophic Sclerosis, Lateral, Amyotrophic, Type 1 Amyotrophic Sclerosis Als - [Amyotrophic Lateral Sclerosis] Wasting Palsy Amyotrophic Paralysis Amyotrophy Lateral Sclerosis Wasting Paralysis Spinal Progressive Amyotrophy Progressive Atrophic Paralysis
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
Spastic Ataxia	Spax Ataxia, Spastic
Peroxisomal Biogenesis Disorder	Zellweger Spectrum Disorders Peroxisome Biogenesis Disorder-Zellweger Syndrome Spectrum Disorders Of Peroxisome Biogenesis Zellweger Spectrum Zellweger Syndrome Spectrum Peroxisomal Biogenesis Disorders Pbd, Zss Pbd-Zsd Pbd-Zss Pbd-Zellweger Spectrum Disorder Peroxisomal Biogenesis Disorders, Zellweger Syndrome Spectrum Peroxisome Biogenesis Disorder Peroxisome Biogenesis Disorder Spectrum Peroxisome Biogenesis Disorders Zellweger Spectrum Disorder Hyperpipecolic Acidaemia
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Zellweger Syndrome	Cerebrohepatorenal Syndrome Zellweger Leukodystrophy Zs Congenital Iron Overload Chr Zws Severe Pbd-Zsd Severe Peroxisome Biogenesis Disorder-Zellweger Spectrum Disorder
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
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
Peripheral Nervous System Disease	Peripheral Neuropathy Peripheral Nerve Disease Peripheral Nerve Disorders Neuropathy, Peripheral Peripheral Neuropathy Due To Vitamin Pyridoxine Hyperalimentation
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder

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-RS13634	SPAST Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS19038	Spast Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS25527	Spast Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Mus musculus	SPAST	MGD	MGI:1858896
Felis catus	SPAST	VGNC	VGNC:65603
Bos taurus	SPAST	VGNC	VGNC:35174
Macaca mulatta	SPAST	VGNC	VGNC:77857
Rattus norvegicus	SPAST	RGD	RGD:1308494
Canis familiaris	SPAST	VGNC	VGNC:46703
Others	SPAST	NCBI