ATXN3 wt Allele

Preferred Label : ATXN3 wt Allele;

NCIt synonyms : Olivopontocerebellar Ataxia 3 Gene; ATX3; JOS; Machado-Joseph Disease (Spinocerebellar Ataxia 3, Olivopontocerebellar Ataxia 3, Autosomal Dominant, Ataxin 3) Gene; Spinocerebellar Ataxia Type 3 Gene; Spinocerebellar Ataxia 3 Gene; AT3; Josephin Gene; Ataxin 3 wt Allele; SCA3; MJD; MJD1;

NCIt definition : Human ATXN3 wild-type allele is located in the vicinity of 14q32.12 and is approximately 62 kb in length. This allele, which encodes ataxin-3 protein, is involved in the regulation of protein homeostasis, gene transcription, cytoskeletal modeling, myogenesis and degradation of misfolded chaperone substrates. The expansion of (CAG)n trinucleotide repeats in the gene from the normal 12-44 to 52-86 is associated with spinocerebellar ataxia 3 (Machado-Joseph disease).;

NCI Metathesaurus CUI : CL1912927;

GenBank Accession Number : U64820;

Details

Origin ID

C192707;

UMLS CUI

C5781202;

Automatic exact mappings (from CISMeF team)
- Spinocerebellar ataxia type 3 [ORDO Disease]
OMIM relation
- Ataxin 3 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_is_element_in_pathway
- Neurodegenerative Disorders Pathway [NCIt concept]
gene_plays_role_in_process
- Deubiquitination [NCIt concept]
- Hydrolysis [NCIt concept]
- Proteolysis [NCIt concept]
- Regulation of Proteolysis [NCIt concept]
- Ubiquitinated Protein Degradation [NCIt concept]
- Unfolded Protein Response [NCIt concept]

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