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].
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)." in: The Journal of biological chemistry, Vol. 279, Issue 13, pp. 12935-42, (2004) (PubMed).
Aliases for HPS3 抗体
HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 (HPS3) 抗体 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 L homeolog (hps3.L) 抗体 HPS3, biogenesis of lysosomal organelles complex 2 subunit 1 (Hps3) 抗体 Hermansky-Pudlak syndrome 3 (Hps3) 抗体 coa 抗体 HPS3 抗体 SUTAL 抗体