This gene encodes a protein containing a potential clathrin-binding motif, consensus dileucine signals, and tyrosine-based sorting signals for targeting to vesicles of lysosomal lineage. The encoded protein may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. Mutations in this gene are associated with Hermansky-Pudlak syndrome type 3. Alternate splice variants exist, but their full length sequence has not been determined.
HPS3; Hermansky-Pudlak syndrome 3; Hermansky-Pudlak syndrome 3 protein; SUTAL; Cocoa; DKFZp686F0413; FLJ22704; Hermansky Pudlak syndrome 3; Hermansky Pudlak syndrome 3 protein; DKFZp686F0413, FLJ22704, SUTAL, HPS3; zgc:152969