This 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 6 protein and may interact with the
cytoplasmic domain of integrin, alpha-3. Mutations in this gene are
associated with Hermansky-Pudlak syndrome type 5. Multiple
transcript variants encoding two distinct isoforms have been
identified for this gene.
