HPS1 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HPS1 wild-type allele is located in the vicinity of 10q24.2 and is approximately 36 kb in length. This allele, which encodes BLOC-3 complex member HPS1 protein, plays a role in the assembly of lysosomes and melanosomes. Mutation of the gene is associated with Hermansky-Pudlak syndrome 1.

**Synonyms:** - BLOC3S1 - HPS - HPS1 Biogenesis of Lysosomal Organelles Complex 3 Subunit 1 wt Allele - HPS1 Biogenesis of Lysosomal Organelles Complex 3, Subunit 1 Gene - Hermansky-Pudlak Syndrome 1 Gene - Hermansky-Pudlak Syndrome Gene - Pale Ear, Mouse, Homolog of Gene