HPS6 wt Allele

**Semantic type:** Gene or Genome

**Definition:** Human HPS6 wild-type allele is located in the vicinity of 10q24.32 and is approximately 3 kb in length. This allele, which encodes BLOC-2 complex member HPS6 protein, is involved in the biogenesis of lysosomal-like organelles and retrograde lysosomal trafficking. Mutations in the gene are associated with Hermansky-Pudlak syndrome 6.

**Synonyms:** - BLOC2S3 - FLJ22501 - HPS6 Biogenesis of Lysosomal Organelles Complex 2 Subunit 3 wt Allele - HPS6 Biogenesis of Lysosomal Organelles Complex 2, Subunit 3 Gene - Hermansky-Pudlak Syndrome 6 Gene - Hermansky-Pudlak Syndrome-6 Protein (HPS6) Gene - Ruby-Eye, Mouse, Homolog of Gene