AP2S1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AP2S1 wild-type allele is located in the vicinity of 19q13.32 and is approximately 13 kb in length. This allele, which encodes AP-2 complex subunit sigma protein, is involved in coated vesicle transport. Mutations in the gene are associated with hypocalciuric hypercalcemia 3.

**Synonyms:** - AP17 - Adaptor Related Protein Complex 2 Sigma 1 Subunit Gene - Adaptor Related Protein Complex 2 Subunit Sigma 1 wt Allele - Adaptor-Related Protein Complex 2, Sigma-1 Subunit Gene - CLAPS2 - Clathrin Adaptor Complex AP2, Sigma Subunit Gene - Clathrin Adaptor Protein AP17 Gene - Clathrin-Associated/Assembly/Adaptor Protein, Small 2 (17kD) Gene - Clathrin-Associated/Assembly/Adaptor Protein, Small 2, 17-kD Gene - FBH3 - FBHOk - HHC3 - Hypocalciuric Hypercalcemia 3 (Oklahoma Type) Gene - Sigma-2 Gene