ATN1 wt Allele

**Semantic type:** Gene or Genome

**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).

**Synonyms:** - Atrophin 1 wt Allele - B37 - CHEDDA - D12S755E - DRPLA - Dentatorubral-Pallidoluysian Atrophy (Atrophin-1) Gene - HRS - NOD