ATN1 wt Allele

Preferred Label : ATN1 wt Allele;

NCIt synonyms : DRPLA; D12S755E; Atrophin 1 wt Allele; Dentatorubral-Pallidoluysian Atrophy (Atrophin-1) Gene; CHEDDA; NOD; B37; HRS;

NCIt definition : Human ATN1 wild-type allele is located in the vicinity of 12p13.31 and is approximately 18 kb in length. This allele, which encodes atrophin-1 protein, is involved in transcriptional repression. Mutation of the gene is associated with congenital hypotonia, epilepsy, developmental delay, and digital anomalies (CHEDDA) and the expansion from 7-35 copies to 49-93 copies of a trinucleotide repeat (CAG/CAA) within this gene is associated with dentatorubral pallidoluysian atrophy (DRPLA).;

NCI Metathesaurus CUI : CL1912926;

GenBank Accession Number : U23851;

Details

Origin ID

C192701;

UMLS CUI

C5780798;

OMIM relation
- Atrophin 1 [OMIM gene]
Semantic type(s)
- Gene or Genome [UMLS semantic type]
gene_found_in_organism
- Human [NCIt concept]
gene_in_chromosomal_location
- 12p13.31 [NCIt concept]
gene_plays_role_in_process
- Transcriptional Regulation [NCIt concept]
- Transcriptional Repression [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients