This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. This protein interacts with Hermansky-Pudlak syndrome 5 protein. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 6.
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Hermansky-Pudlak syndrome 6; Hermansky-Pudlak syndrome 6 protein; Hermansky-Pudlak syndrome-6 protein (HPS6); RP11-302K17.1; Ru; Ruby-eye protein homolog