ATP7A wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human ATP7A wild-type allele is located within Xq13.2-q13.3 and is approximately 139 kb in length. This allele, which encodes copper-transporting ATPase 1 protein, plays a role in the localization of copper ions. Mutations in the gene are associated with both Menkes disease and occipital horn syndrome.

**Synonyms:** - ATPase, Cu(2+)-Transporting, Alpha Polypeptide Gene - ATPase, Cu++ Transporting, Alpha Polypeptide (Menkes Syndrome) Gene - ATPase, Cu++ Transporting, Alpha Polypeptide wt Allele - DSMAX - FLJ17790 - MC1 - MK - MNK - Menkes Syndrome Gene - RP3-465G10.1 - SMAX3