ATXN7 wt Allele

Preferred Label : ATXN7 wt Allele;

NCIt synonyms : SGF73; OPCA3; Spinocerebellar Ataxia 7 (Olivopontocerebellar Atrophy with Retinal Degeneration) Gene; SAGA Associated Factor 73 kDa Homolog (S. cerevisiae) Gene; ADCAII; Ataxin 7 wt Allele; SCA7; SAGA Associated Factor 73 kDa Homolog Gene; Autosomal Dominant Cerebellar Ataxia with Retinal Degeneration Gene;

NCIt definition : Human ATXN7 wild-type allele is located in the vicinity of 3p14.1 and is approximately 140 kb in length. This allele, which encodes ataxin-7 protein, plays a role in the positive regulation of gene transcription through histone acetylation and chromatin remodeling. The expansion of (CAG)n trinucleotide repeats in the gene from the normal 7-17 to 38-130 is associated with spinocerebellar ataxia 7.;

NCI Metathesaurus CUI : CL1912911;

GenBank Accession Number : AJ000517;

Details

Origin ID

C192712;

UMLS CUI

C5780771;

Automatic exact mappings (from CISMeF team)
- Autosomal dominant cerebellar ataxia type II [ORDO Disease]
- Spinocerebellar ataxia type 7 [ORDO Disease]
OMIM relation
- Ataxin 7 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 3p14.1 [NCIt concept]
gene_plays_role_in_process
- Chromatin Remodeling [NCIt concept]
- Cytoskeletal Modeling [NCIt concept]
- Deubiquitination [NCIt concept]
- Histone Acetylation [NCIt concept]
- Transcriptional Activation [NCIt concept]
- Transcriptional Regulation [NCIt concept]

Keyword's position in hierarchy(ies) :

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