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. [provided by RefSeq, Jul 2008].
Helip-Wooley, Westbroek, Dorward, Koshoffer, Huizing, Boissy, Gahl: "Improper trafficking of melanocyte-specific proteins in Hermansky-Pudlak syndrome type-5." in: The Journal of investigative dermatology, Vol. 127, Issue 6, pp. 1471-8, (2007) (PubMed).
Huizing, Parkes, Helip-Wooley, White, Gahl: "Platelet alpha granules in BLOC-2 and BLOC-3 subtypes of Hermansky-Pudlak syndrome." in: Platelets, Vol. 18, Issue 2, pp. 150-7, (2007) (PubMed).
Matsuoka, Ballif, Smogorzewska, McDonald, Hurov, Luo, Bakalarski, Zhao, Solimini, Lerenthal, Shiloh, Gygi, Elledge: "ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage." in: Science (New York, N.Y.), Vol. 316, Issue 5828, pp. 1160-6, (2007) (PubMed).
Huizing, Hess, Dorward, Claassen, Helip-Wooley, Kleta, Kaiser-Kupfer, White, Gahl: "Cellular, molecular and clinical characterization of patients with Hermansky-Pudlak syndrome type 5." in: Traffic (Copenhagen, Denmark), Vol. 5, Issue 9, pp. 711-22, (2004) (PubMed).
Di Pietro, Falcón-Pérez, DellAngelica: "Characterization of BLOC-2, a complex containing the Hermansky-Pudlak syndrome proteins HPS3, HPS5 and HPS6." in: Traffic (Copenhagen, Denmark), Vol. 5, Issue 4, pp. 276-83, (2004) (PubMed).