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. [provided by RefSeq, Jul 2008].
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Dennis, Mantegazza, Snir, Tenza, Acosta-Ruiz, Delevoye, Zorger, Sitaram, de Jesus-Rojas, Ravichandran, Rux, Sviderskaya, Bennett, Raposo, Marks, Setty: "BLOC-2 targets recycling endosomal tubules to melanosomes for cargo delivery." dans: The Journal of cell biology, Vol. 209, Issue 4, pp. 563-77, (2015) (PubMed).
Gautam, Chintala, Li, Zhang, Tan, Novak, Di Pietro, DellAngelica, Swank: "The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2)." dans: The Journal of biological chemistry, Vol. 279, Issue 13, pp. 12935-42, (2004) (PubMed).
Synonymes et noms alternatifs relatifs à HPS3
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 (HPS3), HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog (hps3.L), HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 (Hps3), Hermansky-Pudlak syndrome 3 (Hps3), coa, HPS3, SUTAL