VWA8 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human VWA8 wild-type allele is located in the vicinity of 13q14.11 and is approximately 394 kb in length. This allele, which encodes von Willebrand factor A domain-containing protein 8, is involved in mitochondrial hydrolysis of ATP. Mutations in the gene are associated with retinitis pigmentosa 97.

**Synonyms:** - KIAA0564 - P7BP2 - Pex7p-Binding Protein 2 Gene - RP97 - von Willebrand Factor A Domain Containing 8 wt Allele