AP3B1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human AP3B1 wild-type allele is located in the vicinity of 5q14.1 and is approximately 294 kb in length. This allele, which encodes AP-3 complex subunit beta-1 protein, plays a role in intracellular protein sorting. Mutation of the gene is associated with Hermansky-Pudlak syndrome 2.

**Synonyms:** - ADTB3 - ADTB3A - AP-3 Complex Beta-3A Subunit Gene - Adaptin, Beta-3A Gene - Adaptor Related Protein Complex 3 Beta 1 Subunit Gene - Adaptor Related Protein Complex 3 Subunit Beta 1 wt Allele - Adaptor Related Protein Complex 3, Beta-1 Subunit Gene - Beta-3A Gene - HPS - HPS2 - PE - Pearl, Mouse, Homolog of Gene