ATXN7 - ataxin 7 Gene

Also Known as SCA7; OPCA3; SGF73; ADCAII

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 6314

About ATXN7

Cytogenetic location: 3p14.1 Genomic coordinates (GRCh38): 3:63,863,144-64,003,462 (from NCBI)

This gene has 20 transcripts (splice variants), 213 orthologues, 4 paralogues and is associated with 3 phenotypes. Ubiquitous expression in bone marrow (RPKM 8.0), testis (RPKM 6.7) and 25 other tissues.

Summary

The autosomal dominant cerebellar ataxias (ADCA) are a heterogeneous group of neurodegenerative disorders characterized by progressive degeneration of the cerebellum, brain stem and spinal cord. Clinically, ADCA has been divided into three groups: ADCA types I-III. ADCAI is genetically heterogeneous, with five genetic loci, designated spinocerebellar ataxia (SCA) 1, 2, 3, 4 and 6, being assigned to five different chromosomes. ADCAII, which always presents with retinal degeneration (SCA7), and ADCAIII often referred to as the 'pure' cerebellar syndrome (SCA5), are most likely homogeneous disorders. Several SCA genes have been cloned and shown to contain CAG repeats in their coding regions. ADCA is caused by the expansion of the CAG repeats, producing an elongated polyglutamine tract in the corresponding protein. The expanded repeats are variable in size and unstable, usually increasing in size when transmitted to successive generations. This locus has been mapped to chromosome 3, and it has been determined that the diseased allele associated with spinocerebellar ataxia-7 contains 37-306 CAG repeats (near the N-terminus), compared to 4-35 in the normal allele. The encoded protein is a component of the SPT3/TAF9/GCN5 acetyltransferase (STAGA) and TBP-free TAF-containing (TFTC) chromatin remodeling complexes, and it thus plays a role in transcriptional regulation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2016]

ATXN7 Products (5)

mRNA	Protein	Name
NM_000333.4	NP_000324.1	ataxin-7 isoform a
NM_001128149.3	NP_001121621.2	ataxin-7 isoform c
NM_001177387.1	NP_001170858.1	ataxin-7 isoform b
NM_001377405.1	NP_001364334.1	ataxin-7 isoform a
NM_001377406.1	NP_001364335.1	ataxin-7 isoform a

ATXN7 Protein Structure

SCA7

0
200
400
600
800
892 a.a.

Protein Preferred Names	Protein Names
ataxin-7	Autosomal dominant cerebellar ataxia with retinal degeneration

ATXN7 Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	ATXN7	O15265	NUP62	Homo sapiens	P37198	Pull Down	21078624
Intra	ATXN7	O15265	NUP62	Homo sapiens	P37198	Y2H	21078624
Intra	ATXN7	O15265	TRRAP	Homo sapiens	Q9Y4A5	Pull Down	15115762
Intra	ATXN7	O15265	TRRAP	Homo sapiens	Q9Y4A5	Anti Bait CoIP	15115762
Intra	ATXN7	O15265	TRRAP	Homo sapiens	Q9Y4A5	TAP	24981860
Intra	ATXN7	O15265	SORBS1	Homo sapiens	Q9BX66	ITC	23892081
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	Pull Down	15115762
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	TAP	24981860
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	Anti Bait CoIP	15115762
Intra	ATXN7	O15265	TAF10	Homo sapiens	Q12962	GMS	15115762
Intra	ATXN7	O15265	CEP72	Homo sapiens	Q9P209	Pull Down	21078624
Intra	ATXN7	O15265	NOC2L	Homo sapiens	Q9Y3T9	Pull Down	21078624
Intra	ATXN7	O15265	NOC2L	Homo sapiens	Q9Y3T9	Y2H	21078624
Intra	ATXN7	O15265	AGRN	Homo sapiens	O00468	Y2H	21078624
Intra	ATXN7	O15265	AGRN	Homo sapiens	O00468	Pull Down	21078624
Intra	ATXN7	O15265	MEGF6	Homo sapiens	O75095	Pull Down	21078624
Intra	ATXN7	O15265	MEGF8	Homo sapiens	Q7Z7M0	Y2H	21078624
Intra	ATXN7	O15265	LTBP4	Homo sapiens	Q8N2S1	Y2H	21078624
Cross	ATXN7	O15265	His2B	Drosophila melanogaster	P02283	Pull Down	20634802

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
Spinocerebellar Ataxia 7	Spinocerebellar Ataxia Type 7 SCA7 Opca3 Opca Iii Olivopontocerebellar Atrophy Iii Opca With Retinal Degeneration Opca With Macular Degeneration And External Ophthalmoplegia Adca, Type Ii Autosomal Dominant Cerebellar Ataxia Type 2 Olivopontocerebellar Atrophy 3 Autosomal Dominant Cerebellar Ataxia, Type Ii Autosomal Dominant Cerebellar Ataxia Type Ii Adca2 Adcaii Ataxia With Pigmentary Retinopathy Cerebellar Syndrome-Pigmentary Maculopathy Syndrome Olivopontocerebellar Atrophy With Retinal Degeneration Spinocerebellar Ataxia-7 Ataxia, Spinocerebellar, Type 7
Retinal Degeneration	Degeneration Of Retina
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Machado-Joseph Disease	SCA3 MJD Spinocerebellar Ataxia 3 Azorean Disease Spinocerebellar Ataxia Type 3 Spinocerebellar Atrophy Azorean Neurologic Disease Spinopontine Atrophy Nigrospinodentatal Degeneration Spinocerebellar Atrophy Iii Spinocerebellar Atrophy Type 3 Azorean Ataxia Azorean Disease Of The Nervous System Machado Disease Nigro-Spino-Dentatal Degeneration With Nuclear Ophthalmoplegia Disease, Machado-Joseph Ataxia, Spinocerebellar
Spinocerebellar Ataxia 12	Spinocerebellar Ataxia Type 12 SCA12 Ataxia, Spinocerebellar, Type 12
Olivopontocerebellar Atrophy	Thomas Syndrome Olivopontocerebellar Atrophies Dejerine-Thomas Syndrome Thomas' Syndrome Wadia-Swami Syndrome Opca Potter Sequence-Cleft Lip/Palate-Cardiopathy Syndrome Spinocerebellar Ataxia Type 2
Dentatorubral-Pallidoluysian Atrophy	DRPLA Naito-Oyanagi Disease Haw River Syndrome Myoclonic Epilepsy With Choreoathetosis Nod Ataxia, Chorea, Seizures, And Dementia Dentatorubropallidoluysian Atrophy Hrs Naito Oyanagi Disease Dentatorubral Pallidoluysian Atrophy Dentatorubro-Pallidoluysian Atrophy Myoclonic Epilepsies, Progressive Atrophy, Pallidoluysian, Dentatorubral
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
Spinocerebellar Ataxia 17	Spinocerebellar Ataxia Type 17 SCA17 Huntington Disease-Like 4 Hdl4 Olivopontocerebellar Atrophy V Cerebelloparenchymal Disorder Ii Opca5 Cpd2 Sca 17 Ataxia, Spinocerebellar, Type 17
Spinocerebellar Ataxia 2	Spinocerebellar Ataxia Type 2 SCA2 Amyotrophic Lateral Sclerosis 13 Spinocerebellar Degeneration With Slow Eye Movements SDSEM Spinocerebellar Atrophy Ii Olivopontocerebellar Atrophy Ii Opca2 Cerebellar Degeneration With Slow Eye Movements Wadia-Swami Syndrome Amyotrophic Lateral Sclerosis Type 13 ALS13 Olivopontocerebellar Atrophy Holguin Type Spinocerebellar Ataxia Cuban Type Olivopontocerebellar Atrophy, Holguin Type Spinocerebellar Ataxia, Cuban Type Amyotrophic Lateral Sclerosis, Susceptibility To, 13 Olivopontocerebellar Atrophy 2 Sca 2 Spinocerebellar Ataxia With Slow Eye Movements Spinocerebellar Atrophy 2 Wadia Swami Syndrome Opca Ii Spinocerebellar Ataxia-2 Ataxia, Spinocerebellar, Type 2
Spinal And Bulbar Muscular Atrophy, X-Linked 1	Kennedy Disease Sbma Spinal And Bulbar Muscular Atrophy Kennedy'S Disease X-Linked Spinal And Bulbar Muscular Atrophy SMAX1 Kd Kennedy Spinal And Bulbar Muscular Atrophy Spinobulbar Muscular Atrophy Bulbospinal Muscular Atrophy, X-Linked Bulbospinal Neuronopathy, X-Linked Recessive Xbsn Spinal And Bulbar Muscular Atrophy Of Kennedy Bulbospinal Muscular Atrophy X-Linked Bulbospinal Amyotrophy Bulbo-Spinal Atrophy, X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bulbo-Spinal Atrophy X-Linked Spinal Bulbar Muscular Atrophy X-Linked Bsma X-Linked Bulbospinal Muscular Atrophy Spinal And Bulbar Muscular Atrophy X-Linked 1 Bulbospinal Muscular Atrophy X-Linked Bulbospinal Neuronopathy X-Linked Recessive Kennedy Disease) Kennedy Syndrome Atrophy, Muscular, Spinal And Bulbar, Kennedy Type Atrophy, Muscular, Spinobulbar Bulbospinal Neuronopathy
Tactile Agnosia
Spinocerebellar Ataxia 4	Spinocerebellar Ataxia Type 4 SCA4 Spinocerebellar Ataxia, Autosomal Dominant, With Sensory Axonal Neuropathy Spinocerebellar Ataxia Autosomal Dominant With Sensory Axonal Neuropathy Spinocerebellar Ataxia-4 Spinocerebellar Ataxias
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Spinocerebellar Ataxia 6	Spinocerebellar Ataxia Type 6 SCA6 Type 6 Spinocerebellar Ataxia Spinocerebellar Ataxia-6 Ataxia, Spinocerebellar, Type 6
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
Intestinal Pseudo-Obstruction	Chronic Intestinal Pseudoobstruction Chronic Intestinal Pseudo-Obstruction Cipo Neuronal Intestinal Dysplasia Hollow Visceral Myopathy Familial Visceral Neuropathy Paralytic Ileus Intestinal Pseudoobstruction Chronic Idiopathic Intestinal Pseudo-Obstruction Ciip Congenital Short Bowel Syndrome Enteric Neuropathy Familial Visceral Myopathy Ipo Pseudo-Obstruction Of Intestine Pseudointestinal Obstruction Syndrome Pseudoobstructive Syndrome Congenital Idiopathic Intestinal Pseudoobstruction Visceral Myopathy, Familial
Huntington Disease-Like 2	HDL2 Huntington'S Disease-Like 2 Huntington Disease-Like, Type 2
Cerebellar Ataxia Type 42	Sca42
Cerebellar Ataxia Type 48	Sca48
Spinocerebellar Ataxia 1	Spinocerebellar Ataxia Type 1 SCA1 Olivopontocerebellar Atrophy I Opca1 Opca4 Menzel Type Opca Schut-Haymaker Type Opca Spinocerebellar Atrophy I Opca I Olivopontocerebellar Atrophy Iv Opca Iv Cerebelloparenchymal Disorder I Cpd1 Olivopontocerebellar Atrophy 1 Cerebelloparenchymal Disorder 1 Olivopontocerebellar Atrophy 4 Spinocerebellar Atrophy 1 Type 1 Spinocerebellar Ataxia Spinocerebellar Ataxia-1 Ataxia, Spinocerebellar, Type 1
Ocular Motility Disease	Ocular Motility Disorders Abnormality Of Eye Movement Disorder Of Eye Movements Eye Movement Disorder Eye Movement Disorders
Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, Type 1	Cadasil Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Casil Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Familial Vascular Leukoencephalopathy CADASIL1 Cadasil 1 Hereditary Multi-Infarct Dementia Cadasil Syndrome Dementia, Hereditary Multiinfarct Type Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy 1 Autosomal Dominant Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy Type 1 Cerebral Autosomal Dominant Arteriopathy With Subcortical Infarcts Leukoencephalopathy Dementia, Hereditary Multi-Infarct Type Hereditary Dementia, Multi-Infarct Type Cerebral Autosomal Dominant Arteriopathy-Subcortical Infarcts-Leukoencephalopathy Cerebral Arteriopathy, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy, 1 Cerebral Arteriopathy With Subcortical Infarcts And Leukoencephalopathy, Autosomal Dominant Dementia Hereditary Multiinfarct Type Dementia Hereditary Multi-Infarct Type Arteriopathy, Cerebral, Autosomal Dominant, With Subcortical Infarcts And Leukoencephalopathy
Spinocerebellar Ataxia, Autosomal Recessive 4	SCAR4 Scasi Spinocerebellar Ataxia With Saccadic Intrusions Autosomal Recessive Cerebellar Ataxia-Saccadic Intrusion Syndrome Spinocerebellar Ataxia 24 Autosomal Recessive Spinocerebellar Ataxia 4 Sca24 Spinocerebellar Ataxia 24, Formerly Sca24, Formerly Spinocerebellar Ataxia Autosomal Recessive 4 Autosomal Recessive Cerebellar Ataxia-Movement Disorder Syndrome
Restless Legs Syndrome	Wed Willis-Ekbom Disease Restless Leg Syndrome Ekbom Syndrome Wittmaack-Ekbom Syndrome Willis Ekbom Disease Ekbom'S Syndrome Rls Restless Legs Restless Legs Syndrome, Susceptibility To
X-Linked Hereditary Ataxia
Episodic Ataxia, Type 2	Episodic Ataxia Type 2 EA2 Apca Capa Cerebellopathy, Hereditary Paroxysmal Acetazolamide-Responsive Hereditary Paroxysmal Cerebellar Ataxia Cerebellar Ataxia, Paroxysmal, Acetazolamide-Responsive Episodic Ataxia With Nystagmus Ataxia, Episodic, With Nystagmus Episodic Ataxia, Nystagmus-Associated Ataxia, Familial Paroxysmal Acetazolamide-Responsive Episodic Ataxia Syndrome Acetazolamide-Responsive, Hereditary, Paroxysmal, Cerebellar Ataxia Ataxia, Familial, Paroxysmal Nystagmus-Associated Episodic Ataxia Familial Paroxysmal Ataxia Episodic Ataxia 2 Ea-2 Episodic Ataxia Nystagmus-Associated Hereditary Paroxysmal Cerebellopathy Ataxia, Episodic, Type 2
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
Huntington Disease	Huntington'S Disease Huntington Chorea Huntington'S Chorea HD Huntington Chronic Progressive Hereditary Chorea Juvenile Huntington Disease Chronic Progressive Chorea Chronic Progressive Hereditary Chorea Hc - [Huntington Chorea] Hereditary Chorea Progressive Hereditary Chorea
Episodic Ataxia, Type 6	Episodic Ataxia Type 6 EA6 Episodic Ataxia 6 Ea-6 Ataxia, Episodic, Type 6
Brugada Syndrome 9	BRGDA9 Brugada Syndrome, Type 9
Boucher-Neuhauser Syndrome	Ataxia-Hypogonadism-Choroidal Dystrophy Syndrome BNHS Spinocerebellar Ataxia, Hypogonadotropic Hypogonadism, And Chorioretinal Dystrophy Boucher-Neuhäuser Syndrome Chorioretinal Dystrophy, Spinocerebellar Ataxia, And Hypogonadotropic Hypogonadism Ataxia - Hypogonadism - Choroidal Dystrophy Chorioretinal Dystrophy, Spinocerebellar Ataxia And Hypogonadotropic Hypogonadism Bns Cerebellar Ataxia With Hypogonadism And Choroidal Dystrophy Syndrome Boucher Neuhauser Syndrome
Spinocerebellar Ataxia 8	Spinocerebellar Ataxia Type 8 SCA8 Ataxia, Spinocerebellar, Type 8
Fragile X-Associated Tremor/Ataxia Syndrome	Fxtas Syndrome Fragile X Tremor/Ataxia Syndrome Fxtas
Spinocerebellar Ataxia 40	Spinocerebellar Ataxia Type 40 SCA40 Ataxia, Spinocerebellar, Type 40
Episodic Ataxia	Isaacs Syndrome Neuromyotonia Isaacs' Syndrome Acquired Neuromyotonia Continuous Muscle Fiber Activity Syndrome Quantal Squander Syndrome Isaacs-Mertens Syndrome Ea Syndrome Episodic Ataxia Syndrome Isaac Syndrome Isaac'S-Merten'S Syndrome Isaac-Mertens Syndrome Peripheral Nerve Hyperexcitability Ea Peripheral Nerve Hyperexcitability Syndrome Ataxia, Episodic Isaacs Neuromyotonia Continuous Muscle Fibre Activity
Spinocerebellar Ataxia 14	Spinocerebellar Ataxia Type 14 SCA14 Ataxia, Spinocerebellar, Type 14
Autosomal Recessive Cerebellar Ataxia	Arca
Dystonia	Dystonic Disease Dystonic Disorder Dystonia Disorders Neuroleptic Dyskinesia
Intellectual Developmental Disorder, X-Linked, Syndromic, Billuart Type	MRXSBL Mental Retardation, X-Linked, With Cerebellar Hypoplasia And Distinctive Facial Appearance X-Linked Mental Retardation With Cerebellar Hypoplasia And Distinctive Facial Appearance Mental Retardation, X-Linked 60, Formerly Mrx60, Formerly Intellectual Developmental Disorder, X-Linked Syndromic, Billuart Type Mrx60 Mental Retardation, X-Linked, With Cerebellar Hypoplasia, Distinctive Facial Appearance
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
Choreatic Disease	Chorea Hereditary Chorea
Spinocerebellar Ataxia 10	Spinocerebellar Ataxia Type 10 SCA10 Spinocerebellar Ataxia-10 Ataxia, Spinocerebellar, Type 10
Ataxia, Early-Onset, With Oculomotor Apraxia And Hypoalbuminemia	Aoa1 Ataxia-Telangiectasia-Like Disorder EAOH Eoca-Ha Ataxia With Oculomotor Apraxia Type 1 Ataxia-Oculomotor Apraxia 1 Ataxia-Oculomotor Apraxia Syndrome AOA Ataxia-Telangiectasia-Like Syndrome Ataxia-Oculomotor Apraxia Type 1 Ataxia With Oculomotor Apraxia Cerebellar Ataxia, Early-Onset, With Hypoalbuminemia Early-Onset Ataxia With Oculomotor Apraxia And Hypoalbuminemia Early-Onset Cerebellar Ataxia With Hypoalbuminemia Adult Onset Ataxia With Oculomotor Apraxia Early-Onset Ataxia With Ocular Motor Apraxia And Hypoalbuminemia Scan2 Scar1 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Atld Ataxia Early-Onset With Oculomotor Apraxia And Hypoalbuminemia Cerebellar Ataxia Early-Onset With Hypoalbuminemia Ataxia-Oculomotor Apraxia Spinocerebellar Ataxia, Autosomal Recessive 1
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
Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy 2	Aoa2 Ataxia With Oculomotor Apraxia Type 2 Scar1 SCAN2 Ataxia-Oculomotor Apraxia 2 Ataxia-Ocular Apraxia 2 Ataxia-Oculomotor Apraxia Type 2 Scan 2 Spinocerebellar Ataxia With Axonal Neuropathy Type 2 Spinocerebellar Ataxia, Autosomal Recessive 1, Formerly Scar1, Formerly Autosomal Recessive Spinocerebellar Ataxia-1 Spinocerebellar Ataxia, Autosomal Recessive, 1 Ataxia-Ocular Apraxia-2 Spinocerebellar Ataxia, Autosomal Recessive 1
Familial Adult Myoclonic Epilepsy	Benign Adult Familial Myoclonus Epilepsy Bafme Benign Adult Familial Myoclonic Epilepsy Fame Familial Cortical Myoclonic Tremor And Epilepsy Fcmte Adcme Autosomal Dominant Cortical Myoclonus And Epilepsy Fam Epilepsy, Myoclonic, Familial Adult Epilepsy, Myoclonic, Benign Adult Familial, Type 2
Myotonic Dystrophy 1	Myotonic Dystrophy Dystrophia Myotonica Steinert Disease Myotonic Dystrophy Type 1 Myotonia Atrophica DM1 Congenital Myotonic Dystrophy Myotonia Dystrophica Steinert Myotonic Dystrophy Dystrophia Myotonica 1 Dm Steinert'S Disease Steinert Myotonic Dystrophy Syndrome Myotonic Dystrophy Of Steinert Dystrophia Myotonica Type 1 Myotonic Dystrophy Congenital Dystrophy, Myotonic, Type 1 Dm - [Dystrophia Myotonica] Myotonic Muscular Dystrophy
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
Spinal Muscular Atrophy	Sma 5q Sma Proximal Sma Sma-Associated Sma Spinal Amyotrophies Spinal Amyotrophy Spinal Muscle Degeneration Spinal Muscle Wasting Muscular Atrophy Spinal Atrophy, Muscular, Spinal Hereditary Motor Neuronopathy Progressive Muscular Atrophy Sma - [Spinal Muscular Atrophy]
Eye Degenerative Disease
Movement Disease	Movement Disorders Movement Disorder
Spastic Ataxia	Spax Ataxia, Spastic
Parkinson Disease, Late-Onset	Parkinson Disease Parkinson'S Disease PD PARK Parkinson Disease, Susceptibility To Late Onset Parkinson'S Disease Late Onset Parkinson Disease Paralysis Agitans Primary Parkinsonism Idiopathic Parkinson Disease Parkinson'S Parkinson Disease, Late-Onset, Susceptibility To Parkinson Disease, Age Of Onset, Modifier Lewy Body Parkinson Disease Idiopathic Parkinson'S Disease Pd - [Parkinson Disease] Parkinson Disease Nos Parkinson, Nos Primary Parkinson Disease
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
Cone-Rod Dystrophy 2	Cone-Rod Dystrophy CORD2 Cone-Rod Retinal Dystrophy Rcrd2 Cone-Rod Retinal Dystrophy 2 Crd2 Cord Crd Retinal Cone-Rod Dystrophy Cone-Rod Retinal Dystrophy-2 Retinal Cone-Rod Dystrophy 2 Tapetoretinal Degeneration Cone-Rod Degeneration Cone Rod Dystrophy Dystrophy, Cone-Rod Dystrophy, Cone-Rod, Type 2 Retinitis Pigmentosa Retinitis Pigmentosa 2 Progressive Cone-Rod Dystrophy
Fundus Dystrophy	Retinal Dystrophy Retinal Dystrophies Dystrophy, Retinal
Eye Disease	Eye Diseases Abnormality Of The Eye Toxoplasma Oculopathy
Nervous System Disease	Abnormality Of The Nervous System Nervous System Diseases Nervous System Disorder
Retinitis Pigmentosa	RP Rod-Cone Dystrophy Autosomal Recessive Retinitis Pigmentosa Non-Syndromic Retinitis Pigmentosa Pericentral Pigmentary Retinopathy Pigmentary Retinopathy Tapetoretinal Degeneration Rcd Retinitis Pigmentosa Autosomal Recessive ARRP Retinitis Pigmentosa, Autosomal Recessive Retinitis Pigmentosa 1

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-RS01260	ATXN7 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01261	ATXN7L1 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS01262	ATXN7L3 Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Rattus norvegicus	ATXN7	RGD	RGD:1562692
Mus musculus	ATXN7	MGD	MGI:2179277
Felis catus	ATXN7	VGNC	VGNC:69357
Bos taurus	ATXN7	VGNC	VGNC:26342
Canis familiaris	ATXN7	VGNC	VGNC:38303
Macaca mulatta	ATXN7	VGNC	VGNC:110382
Others	ATXN7	NCBI