HPS6
Hermansky–Pudlak syndrome 6, also known as ruby-eye protein homolog, is a protein that in humans is encoded by the HPS6 gene.Function
This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. HPS6 along with HPS3 and HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2.Mutations in this gene are associated with Hermansky–Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.
