This gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.
HPS1; Hermansky-Pudlak syndrome 1; Hermansky Pudlak syndrome , HPS; Hermansky-Pudlak syndrome 1 protein; Hermansky Pudlak syndrome 1 protein; Hermansky Pudlak syndrome gene; Hermansky Pudlak syndrome type 1; HPS; MGC5277; Hermansky-Pudlak syndrome type 1; im:7143944; zgc:123240; DKEYP-34H12.4