APTX wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human APTX wild-type allele is located in the vicinity of 9p21.1 and is approximately 139 kb in length. This allele, which encodes aprataxin protein, is involved in DNA repair. Mutation of the gene is associated with ataxia-ocular apraxia type 1.

**Synonyms:** - AOA - AOA1 - AXA1 - Aprataxin wt Allele - Ataxia 1, Early Onset With Hypoalbuminemia Gene - EAOH - EOAHA - FHA-HIT