SETX - senataxin Gene

Also Known as ALS4; AOA2; STEX; Sen1; SCAN2; SCAR1; bA479K20.2

Species: Homo sapiens

Gene Type: protein coding

Gene ID: 23064

About SETX

Cytogenetic location: 9q34.13 Genomic coordinates (GRCh38): 9:132,261,356-132,356,744 (from NCBI)

This gene has 5 transcripts (splice variants), 190 orthologues, 10 paralogues and is associated with 4 phenotypes. Ubiquitous expression in thyroid (RPKM 20.6), testis (RPKM 18.7) and 24 other tissues.

Summary

This gene encodes a protein named for its homology to the Sen1p protein of fungi which has RNA helicase activity encoded by a domain at the C-terminal end of the protein. The protein encoded by this gene contains a DNA/RNA helicase domain at its C-terminal end which suggests that it may be involved in both DNA and RNA processing. Mutations in this gene have been associated with ataxia-ocular apraxia-2 (AOA2) and an autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS4). [provided by RefSeq, Jul 2008]

SETX Products (3)

mRNA	Protein	Name
NM_001351527.2	NP_001338456.1	probable helicase senataxin isoform 1
NM_001351528.2	NP_001338457.1	probable helicase senataxin isoform 2
NM_015046.7	NP_055861.3	probable helicase senataxin isoform 1

Gene Ontology

Molecular Function
Biological Process
Cellular Component

Molecular Function GO Annotation	Evidence	References	Source
enables identical protein binding	IPI IPI: Inferred from physical interaction	24244371	GOA
enables protein binding	IPI IPI: Inferred from physical interaction	19515850	GOA
enables transcription termination site sequence-specific DNA binding	IDA IDA: Inferred from direct assay	21700224	GOA

Biological Process GO Annotation	Evidence	References	Source
involved in DNA damage response	IDA IDA: Inferred from direct assay	17562789	GOA
involved in DNA-templated transcription termination	IMP IMP: Inferred from mutant phenotype	26700805	GOA
involved in cellular response to hydrogen peroxide	IDA IDA: Inferred from direct assay	17562789	GOA
involved in cellular response to oxidative stress	IDA IDA: Inferred from direct assay	17562789	GOA
involved in double-strand break repair	IDA IDA: Inferred from direct assay	17562789	GOA
involved in mRNA splice site recognition	IMP IMP: Inferred from mutant phenotype	19515850	GOA
involved in positive regulation of DNA-templated transcription initiation	IMP IMP: Inferred from mutant phenotype	21700224	GOA
involved in positive regulation of RNA splicing	IMP IMP: Inferred from mutant phenotype	19515850	GOA
involved in positive regulation of neuron projection development	IDA IDA: Inferred from direct assay	21576111	GOA
involved in positive regulation of termination of DNA-templated transcription	IMP IMP: Inferred from mutant phenotype	19515850	GOA
involved in positive regulation of termination of RNA polymerase II transcription, poly(A)-coupled	IMP IMP: Inferred from mutant phenotype	21700224	GOA
involved in positive regulation of transcription by RNA polymerase II	IMP IMP: Inferred from mutant phenotype	19515850	GOA

Cellular Component GO Annotation	Evidence	References	Source
located in axon	IDA IDA: Inferred from direct assay	21576111	GOA
located in cytoplasm	IDA IDA: Inferred from direct assay	17562789	GOA
located in growth cone	IDA IDA: Inferred from direct assay	21576111	GOA
located in nuclear chromosome	IDA IDA: Inferred from direct assay	24105744	GOA
located in nucleoplasm	IDA IDA: Inferred from direct assay	17562789	GOA
located in nucleus	IDA IDA: Inferred from direct assay	17562789	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

SETX Protein Structure

AAA_11

AAA_12

0
500
1000
1500
2000
2500
2677 a.a.

Protein Preferred Names	Protein Names
probable helicase senataxin	SEN1 homolog

SETX Protein-protein interaction Information

Type	Protein Name	Protein ID	Interactor	Interactor Species	Interactor ID	Detection Method	References
Intra	SETX	Q7Z333	USP2	Homo sapiens	O75604-3	Y2H Pooling	32814053
Intra	SETX	Q7Z333	USP2	Homo sapiens	O75604-3	Validated Y2H	32814053
Intra	SETX	Q7Z333	USP2	Homo sapiens	O75604-3	Y2H Array	32814053
Intra	SETX	Q7Z333	SETX	Homo sapiens	Q7Z333	GMS	24244371
Intra	SETX	Q7Z333	POLR2A	Homo sapiens	P24928	Anti Tag CoIP	26700805
Intra	SETX	Q7Z333	SETX	Homo sapiens	Q7Z333	Crosslink	24244371
Intra	SETX	Q7Z333	UBE2I	Homo sapiens	P63279	Y2H Pooling	20936779
Intra	SETX	Q7Z333	SETX	Homo sapiens	Q7Z333	Y2H	24244371

Cross: Cross-species interaction Intra: Intraspecies interaction

Related Diseases

Diseases	Alias
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
Amyotrophic Lateral Sclerosis 4, Juvenile	Amyotrophic Lateral Sclerosis Type 4 ALS4 Amyotrophic Lateral Sclerosis 4 Dhmn With Upper Motor Neuron Signs Distal Hereditary Motor Neuropathy With Upper Motor Neuron Signs Neuronopathy, Distal Hereditary Motor, With Pyramidal Features Als 4 Distal Hereditary Motor Neuropathy With Pyramidal Features Amyotrophic Lateral Sclerosis Juvenile 4 Neuronopathy Distal Hereditary Motor With Pyramidal Features Sclerosis, Lateral, Amyotrophic, Type Type 4
Aceruloplasminemia	Cerebellar Ataxia Hypoceruloplasminemia Hemosiderosis, Systemic, Due To Aceruloplasminemia Familial Apoceruloplasmin Deficiency Hereditary Ceruloplasmin Deficiency Deficiency Of Ferroxidase Hypoceruloplasminemia, Hereditary Ceruloplasmin Deficiency Systemic Hemosiderosis Due To Aceruloplasminemia ACERULOP
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
Apraxia	Apraxias Dyspraxia
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
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
Oculomotor Apraxia
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
Frontotemporal Dementia	Pallidopontonigral Degeneration Frontotemporal Lobar Degeneration Semantic Dementia FTD Frontotemporal Lobe Dementia Multiple System Tauopathy With Presenile Dementia Dementia, Frontotemporal Frontotemporal Dementia With Parkinsonism Mstd Frontotemporal Lobar Degeneration With Tau Inclusions Ftld With Tau Inclusions Dementia, Frontotemporal, With Parkinsonism Fldem Ftdp17 Disinhibition-Dementia-Parkinsonism-Amyotrophy Complex Ddpac Wilhelmsen-Lynch Disease Wld Ppnd Dementia, Frontotemporal, With Or Without Parkinsonism Semantic Primary Progressive Aphasia Semantic Variant Ppa Wilhemsen-Lynch Disease Frontotemporal Dementia-Amyotrophic Lateral Sclerosis Frontotemporal Dementia And Parkinsonism Linked To Chromosome 17 Ftd-Als Ftld Pick Complex Pick Disease Of The Brain Frontotemporal Dementia With Parkinsonism-17 Grn-Related Frontotemporal Dementia Frontotemporal Dementia With Motor Neuron Disease Dementia In Fronto-Temporal Lobar Degeneration Ftd - [Frontotemporal Dementia] Temple Dementia Frontal Lobe Dementia
Cerebral Palsy	Infantile Cerebral Palsy Mixed Cerebral Palsy Palsy Cerebral Palsy, Cerebral Cerebral Palsy, Mixed
Juvenile Amyotrophic Lateral Sclerosis	Jals Juvenile Charcot Disease Juvenile Lou Gehrig Disease Amyotrophic Lateral Sclerosis, Juvenile
Spastic Ataxia	Spax Ataxia, Spastic
Axonal Neuropathy
Amyotrophic Lateral Sclerosis Type 6	Amyotrophic Lateral Sclerosis 6, Autosomal Recessive Als6 Amyotrophic Lateral Sclerosis 6, With Or Without Frontotemporal Dementia Autosomal Recessive Amyotrophic Lateral Sclerosis 6 Sclerosis, Lateral, Amyotrophic, Type Type 6 Amyotrophic Lateral Sclerosis 6
Ataxia-Oculomotor Apraxia 3	Ataxia With Oculomotor Apraxia Type 3 AOA3 Aaxia-Oculomotor Apraxia-3 Ataxia-Oculomotor Apraxia, Type 3
Amyotrophic Lateral Sclerosis 11	Amyotrophic Lateral Sclerosis Type 11 ALS11 Sclerosis, Lateral, Amyotrophic, Type Type 11
Amyotrophic Lateral Sclerosis Type 15	Amyotrophic Lateral Sclerosis 15, With Or Without Frontotemporal Dementia Als15 Amyotrophic Lateral Sclerosis 15
Neuropathy	Peripheral Neuropathy Peripheral Neuropathies
Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia	Amyotrophic Lateral Sclerosis Type 10 ALS10 Amyotrophic Lateral Sclerosis 10, With Or Without Ftd Frontotemporal Lobar Degeneration, Tardbp-Related Amyotrophic Lateral Sclerosis 10 Amyotrophic Lateral Sclerosis 10, With Or Without Frontotemporal Dementia Tardbp-Related Frontotemporal Lobar Degeneration With Tdp43 Inclusions Amyotrophic Lateral Sclerosis 10 With Or Without Frontotemporal Dementia And With Tdp43 Inclusions Sclerosis, Lateral, Amyotrophic, Type Type 10
Amyotrophic Lateral Sclerosis 8	Amyotrophic Lateral Sclerosis Type 8 ALS8 Sclerosis, Lateral, Amyotrophic, Type Type 8
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
Ceroid Lipofuscinosis, Neuronal, 8	Neuronal Ceroid Lipofuscinosis 8 CLN8 Cln8 Disease Epilepsy Mental Deterioration Finnish Type Northern Epilepsy Cln8 Disease, Epmr Cln8 Disease, Northern Epilepsy Variant Cln8 Disease, Late Infantile Ceroid Lipofuscinosis Neuronal 8 Ncl, Northern Epilepsy Variant Neuronal Ceroid Lipofuscinosis, Northern Epilepsy Variant Progressive Epilepsy - Intellectual Disability, Finnish Type Progressive Epilepsy-Intellectual Disability Syndrome, Finnish Type Turkish Variant Late Infantile Ncl Ceroid Lipofuscinosis, Neuronal 8 Lipofuscinosis, Ceroid, Neuronal, Type 8 Northern Epilepsy Syndrome
Spinocerebellar Ataxia, Autosomal Recessive 26	SCAR26 Autosomal Recessive Spinocerebellar Ataxia 26 Spinocerebellar Ataxia, Autosomal Recessive, 26
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 Type 12	Amyotrophic Lateral Sclerosis 12 Als12 Sclerosis, Lateral, Amyotrophic, Type Type 12
Autosomal Recessive Cerebellar Ataxia	Arca
Spastic Ataxia, Charlevoix-Saguenay Type	Charlevoix-Saguenay Spastic Ataxia Autosomal Recessive Spastic Ataxia Of Charlevoix-Saguenay Arsacs SACS Spax6 Spastic Ataxia Charlevoix-Saguenay Type Spastic Ataxia 6, Autosomal Recessive Autosomal Recessive Spastic Ataxia Type 6 Spastic Ataxia Of Charlevoix-Saguenay Atx/Hsp-Sacs Ataxia, Spastic, Charlevoix-Saguenay Type
Autosomal Dominant Wolfram Syndrome
Spinocerebellar Ataxia Type 1 With Axonal Neuropathy	Scan1 Spinocerebellar Ataxia With Axonal Neuropathy Type 1 Autosomal Recessive Spinocerebellar Ataxia With Axonal Neuropathy Scan1, Tdp1-Related Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia Autosomal Recessive With Axonal Neuropathy Spinocerebellar Ataxia With Axonal Neuropathy Spinocerebellar Ataxia, Autosomal Recessive, With Axonal Neuropathy Ataxia, Spinocerebellar, Autosomal Recessive With Axonal Neuropathy
Spinocerebellar Ataxia 29	Spinocerebellar Ataxia Type 29 SCA29 Cnpca Cerebellar Vermis Aplasia Aplasia Of Cerebellar Vermis Acv Cerebellar Ataxia, Congenital Nonprogressive, Autosomal Dominant Spinocerebellar Ataxia 29, Congenital Nonprogressive Congenital Nonprogressive Spinocerebellar Ataxia Autosomal Dominant Congenital Nonprogressive Cerebellar Ataxia Ataxia, Spinocerebellar, Type 29, Congenital Nonprogressive Familial Aplasia Of The Vermis
Ataxia With Vitamin E Deficiency	Ataxia With Isolated Vitamin E Deficiency AVED Familial Isolated Vitamin E Deficiency Friedreich-Like Ataxia Familial Isolated Deficiency Of Vitamin E Isolated Vitamin E Deficiency Ataxia, Friedreich-Like, With Selective Vitamin E Deficiency Vitamin E Deficiency, Familial Isolated Ved Friedreich-Like Ataxia With Selective Vitamin E Deficiency Five Friedreich Ataxia Phenotype With Selective Vitamin E Deficiency Vitamin E Familial Isolated, Deficiency Of Ataxia Friedreich-Like With Selective Vitamin E Deficiency
Muscular Atrophy	Muscle Wasting Amyotrophia Wasting - Muscle Skeletal Muscle Atrophy
Amyotrophic Lateral Sclerosis 16, Juvenile	Amyotrophic Lateral Sclerosis Type 16 ALS16 Amyotrophic Lateral Sclerosis 16 Sclerosis, Lateral, Amyotrophic, Type 16, Juvenile
Ataxia-Telangiectasia	Ataxia Telangiectasia Louis-Bar Syndrome AT At1 Ataxia-Telangiectasia Syndrome Ataxia - Telangiectasia Variant Boder-Sedgwick Syndrome Louis Bar Syndrome Cerebello-Oculocutaneous Telangiectasia Immunodeficiency With Ataxia Telangiectasia A-T Ataxia Telangiectasia Syndrome Atm Telangiectasia, Cerebello-Oculocutaneous Ataxia-Telangiectasia Variant
Cerebral Palsy, Ataxic, Autosomal Recessive	Ataxic Cerebral Palsy Acp Hypotonic Cerebral Palsy Cerebral Palsy Ataxic Cerebral Palsy, Atonic Congenital Cerebral Palsy With Ataxia Ataxic Cerebral Paralysis Ataxia With Cerebral Palsy Cerebral Infantile Diataxia
Spinocerebellar Ataxia, Autosomal Recessive 27	SCAR27 Autosomal Recessive Spinocerebellar Ataxia 27 Spinocerebellar Ataxia, Autosomal Recessive, 27
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
Amyotrophic Lateral Sclerosis 21	Amyotrophic Lateral Sclerosis Type 21 ALS21 Multisystem Proteinopathy 5 Msp5 Distal Myopathy With Vocal Cord Weakness Vcpdm Myopathy, Distal, 2, Formerly Mpd2, Formerly Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy, Formerly Vcpdm, Formerly Vocal Cord And Pharyngeal Distal Myopathy Matr3-Related Distal Myopathy Distal Myopathy 2 Mpd2 Vocal Cord And Pharyngeal Dysfunction With Distal Myopathy Sclerosis, Lateral, Amyotrophic, Type 21 Myopathy, Distal 2
Coenzyme Q10 Deficiency, Primary, 4	Scar9 Spinocerebellar Ataxia, Autosomal Recessive 9 Autosomal Recessive Ataxia Due To Ubiquinone Deficiency COQ10D4 Arca2 Autosomal Recessive Cerebellar Ataxia Type 2 Primary Coenzyme Q10 Deficiency 4 Autosomal Recessive Ataxia Due To Coenzyme Q10 Deficiency Autosomal Recessive Spinocerebellar Ataxia Type 9 Autosomal Recessive Spinocerebellar Ataxia 9 Spinocerebellar Ataxia Autosomal Recessive 9 Coenzyme Q10 Deficiency, Primary, Type 4 Ataxia, Spinocerebellar, Autosomal Recessive, Type 9
Spinal Muscular Atrophy With Lower Extremity Predominant	Spinal Muscular Atrophy With Lower Extremity Predominance Autosomal Dominant Childhood-Onset Proximal Spinal Muscular Atrophy With Contractures Kugelberg-Welander Syndrome, Autosomal Dominant Lower Extremity-Predominant Autosomal Dominant Proximal Spinal Muscular Atrophy With Contractures Sma-Led Spinal Muscular Atrophy, Childhood, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Juvenile, Proximal, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Autosomal Dominant Spinal Muscular Atrophy, Lower Extremity, Dominant
Amyotrophic Lateral Sclerosis 18	Amyotrophic Lateral Sclerosis Type 18 ALS18 Sclerosis, Lateral, Amyotrophic, Type 18
Cerebellar Disease	Cerebellar Diseases Cerebellar Dysfunction Cerebellar Abnormality Cerebellar Disorders
Spinal Muscular Atrophy, Distal, Autosomal Recessive, 1	Smard1 DSMA1 Sianrf Dhmn6 Spinal Muscular Atrophy With Respiratory Distress 1 HMN6 Severe Infantile Axonal Neuropathy With Respiratory Failure Autosomal Recessive Distal Spinal Muscular Atrophy 1 Diaphragmatic Spinal Muscular Atrophy Spinal Muscular Atrophy With Respiratory Distress Type 1 Neuronopathy, Distal Hereditary Motor, Type Vi Hmn Vi Neuronopathy, Severe Infantile Axonal, With Respiratory Failure Distal Spinal Muscular Atrophy 1 Autosomal Recessive Spinal Muscular Atrophy With Respiratory Distress Distal Hereditary Motor Neuropathy Type 6 Distal-Hmn Type 6 Severe Infantile Axonal Neuropathy With Respiratory Failure Type 1 Spinal Muscular Atrophy, Diaphragmatic Distal Hereditary Motor Neuronopathy Type Vi Distal Spinal Muscular Atrophy Type 1 Hmnvi Spinal Muscular Atrophy With Respiratory Distress Autosomal Recessive Distal Spinal Muscular Atrophy Type 1 Neuronopathy, Distal Hereditary Motor, 6 Dhmn Vi Distal Hereditary Motor Neuropathy Type Vi Severe Infantile Axonal Neuronopathy With Respiratory Failure Spinal Muscular Atrophy Distal Autosomal Recessive 1 Atrophy, Muscular, Spinal, Distal, Type 1
Amyotrophic Lateral Sclerosis Type 14	Als14 Amyotrophic Lateral Sclerosis 14 Amyotrophic Lateral Sclerosis, With Or Without Frontotemporal Dementia Amyotrophic Lateral Sclerosis 14 With Or Without Frontotemporal Dementia
Hereditary Ataxia	Sca Spinocerebellar Ataxia Ataxias Hereditary Ataxias, Hereditary
Autosomal Recessive Distal Hereditary Motor Neuronopathy	Autosomal Recessive Distal Spinal Muscular Atrophy
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
Distal Hereditary Motor Neuronopathy Type 7	Dhmn7 Dhmnvpy Distal Spinal Muscular Atrophy With Vocal Cord Paralysis
Progressive Bulbar Palsy	Bulbar Palsy, Progressive Progressive Bulbar Atrophy Bulbar Palsy Pbp - [Progressive Bulbar Palsy] Progressive Bulbar Paralysis Bulbar Paralysis Chronic Bulbar Palsy Chronic Bulbar Paralysis Supranuclear Bulbar Paralysis
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
Progressive Muscular Atrophy	Progressive Spinal Muscular Atrophy Pure Progressive Muscular Atrophy Pma Hereditary Spinal Muscle Atrophy Pma - [Progressive Muscular Atrophy] Progressive Muscle Atrophy Progressive Spinal Muscle Atrophy Duchenne-Aran Atrophy Duchenne-Aran Muscle Atrophy Hereditary Sma - [Spinal Muscle Atrophy]
Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis 1	FTDALS1 Frontotemporal Dementia And/Or Motor Neuron Disease Ftdmnd Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia Alsftd Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis-1 Frontotemporal Dementia With Motor Neuron Disease Ftdals Ftd-Als Ftd-Mnd Frontotemporal Dementia With Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis With Frontotemporal Dementia 1 Amyotrophic Lateral Sclerosis/Frontotemporal Dementia Dementia, Frontotemporal, And/Or Amyotrophic Lateral Sclerosis Amyotrophic Lateral Sclerosis And/Or Frontotemporal Dementia 1 Frontotemporal Lobar Degeneration Grn-Related Frontotemporal Dementia
Autosomal Dominant Cerebellar Ataxia	Spinocerebellar Ataxia Adca Pierre Marie Cerebellar Ataxia Ataxia, Spinocerebellar Sca Autosomal Dominant Spinocerebellar Ataxia Spinocerebellar Ataxias
Hemochromatosis, Type 1	Hemochromatosis Hemochromatosis Type 1 Hereditary Hemochromatosis Hh HFE1 Hfe Hemochromatosis, Modifier Of Symptomatic Form Of Classic Hemochromatosis Symptomatic Form Of Hemochromatosis Type 1 Symptomatic Form Of Hfe-Related Hereditary Hemochromatosis Haemochromatosis Iron Storage Disorder Bronze Diabetes Hereditary Haemochromatosis Hlah Hfe Hemochromatosis, Hereditary Diabetes Bronze Classic Hemochromatosis Hfe-Associated Hereditary Hemochromatosis Hemochromatosis Classic Bronzed Cirrhosis Familial Hemochromatosis Genetic Hemochromatosis Hc Pigmentary Cirrhosis Primary Hemochromatosis Troisier-Hanot-Chauffard Syndrome Von Recklenhausen-Applebaum Disease Hemochromatosis 1 Primary Hereditary Hemochromatosis Bronze Cirrhosis
Choreatic Disease	Chorea Hereditary Chorea
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
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
Hypertrophic Neuropathy Of Dejerine-Sottas	Dejerine-Sottas Disease Dejerine-Sottas Syndrome Charcot-Marie-Tooth Disease Type 3 DSS Hereditary Motor And Sensory Neuropathy Type Iii Hmsn3 Dejerine-Sottas Neuropathy Hmsn Iii Charcot-Marie-Tooth Disease, Type 3 Cmt3 Dsn Hmsn 3 Hereditary Motor And Sensory Neuropathy Type 3 Hereditary Motor And Sensory Neuropathy 3 Hypertrophic Neuropathy Of Infancy Charcot-Marie-Tooth Disease Demyelinating Type 4f Charcot-Marie-Tooth Disease Type 4f Charcot-Marie-Tooth Neuropathy Type 4f Cmt4f Hereditary Motor And Sensory Neuropathy Iii Charcot-Marie-Tooth Disease, Demyelinating, Type 4f
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
Aicardi-Goutieres Syndrome	Aicardi Goutieres Syndrome Cree Encephalitis Aicardi-Goutières Syndrome Encephalopathy With Basal Ganglia Calcification Ags Encephalopathy With Intracranial Calcification And Chronic Lymphocytosis Of Cerebrospinal Fluid Pseudotoxoplasmosis Syndrome Encephalopathy, Familial Infantile, With Calcification Of Basal Ganglia And Chronic Cerebrospinal Fluid Lymphocytosis Familial Infantile Encephalopathy With Intracranial Calcification And Chronic Cerebrospinal Fluid Lymphocytosis Aicardi-Goutieres Syndrome 1
Neuromuscular Disease	Neuromuscular Diseases Neuromuscular Disorders Neuromuscular Disorder
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
Fanconi Anemia, Complementation Group A	Fanconi Anemia Fanconi Pancytopenia Fanconi Anemia Complementation Group A FANCA Fa Fanconi Panmyelopathy Fanconi'S Anemia Fanconi Anaemia Fanconi'S Anaemia Fanconi Hypoplastic Anemia Estren-Dameshek Variant Of Fanconi Anemia Estren-Dameshek Variant Of Fanconi Pancytopenia Fanconi Anemia Estren-Dameshek Variant Fanconis Anemia

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-RS12752	SETX Human Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS22320	Setx Mouse Pre-designed siRNA Set A	Pre-designed Set	/	Unkown
HY-RS28842	Setx Rat Pre-designed siRNA Set A	Pre-designed Set	/	Unkown

Orthologs Information

Species	Symbol	Source	ID
Canis familiaris	SETX	VGNC	VGNC:46062
Macaca mulatta	SETX	VGNC	VGNC:77356
Mus musculus	SETX	MGD	MGI:2443480
Bos taurus	SETX	VGNC	VGNC:34501
Felis catus	SETX	VGNC	VGNC:67403
Rattus norvegicus	SETX	RGD	RGD:1565575
Others	SETX	NCBI