HPS6

Hermansky-Pudlak syndrome 6 (HPS6) also known as ruby-eye protein homolog (Ru) is a is_associated_with::protein that in humans is encoded by the HPS6 is_associated_with::gene.

Function
This is_associated_with::intronless gene encodes a protein that may play a role in organelle is_associated_with::biogenesis associated with is_associated_with::melanosomes, platelet dense granules, and is_associated_with::lysosomes. HPS6 along with is_associated_with::HPS3 and is_associated_with::HPS5 form a stable protein complex named Biogenesis of Lysosome-related Organelles Complex-2 (BLOC-2).

Clinical significance
Mutations in this gene are associated with is_associated_with::Hermansky-Pudlak syndrome type 6 characterized by albinism and prolonged bleeding.