SETX wt Allele

Preferred Label : SETX wt Allele;

NCIt synonyms : ALS4; SCAR1; Amyotrophic Lateral Sclerosis 4 Gene; bA479K20.2; AOA2; Spinocerebellar Ataxia, Recessive, Non-Friedreich Type 1 Gene; KIAA0625; Senataxin wt Allele;

NCIt definition : Human SETX wild-type allele is located in the vicinity of 9q34.13 and is approximately 95 kb in length. This allele, which encodes probable helicase senataxin protein, plays a role in the metabolism of both DNA and RNA. Mutation of the gene is associated with juvenile amyotrophic lateral sclerosis 4 and autosomal recessive spinocerebellar ataxia 1.;

GenBank Accession Number : AB014525;

Details

Origin ID

C124950;

UMLS CUI

C4084756;

Automatic exact mappings (from CISMeF team)
- Amyotrophic lateral sclerosis 4, juvenile [OMIM Phenotype]
- Amyotrophic lateral sclerosis type 4 [ORDO Disease]
- Spinocerebellar ataxia with axonal neuropathy type 2 [ORDO Disease]
- Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 [OMIM Phenotype]
- WASP family member 1 [ORDO Gene]
- Wasp protein family, member 1 [OMIM gene]
- senataxin [ORDO Gene]
- spinocerebellar ataxia, autosomal recessive 1 [MeSH Supplementary Concept]
OMIM relation
- Senataxin [OMIM gene]
See also inter- (CISMeF)
- Autosomal recessive ataxia with oculomotor apraxia type 2 [ICD-11 More detail]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 9q34.13 [NCIt concept]
gene_plays_role_in_process
- ATP Hydrolysis [NCIt concept]
- Biological Rhythm [NCIt concept]
- Cellular Stress Response [NCIt concept]
- DNA Maintenance Process [NCIt concept]
- Hydrolysis [NCIt concept]
- RNA Processing [NCIt concept]

Keyword's position in hierarchy(ies) :

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