This intronless gene encodes a protein that may play a role in organelle biogenesis associated with melanosomes, platelet dense granules, and lysosomes. A similar protein in mouse is a component of a protein complex termed biogenesis of lysosome-related organelles complex 1 (BLOC-1), and is a model for Hermansky-Pudlak syndrome. The encoded protein may play a role in intracellular vesicular trafficking.
^Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (May 2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)". Blood101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID12576321.
^Gwynn B, Ciciotte SL, Hunter SJ, Washburn LL, Smith RS, Andersen SG, Swank RT, Dell'Angelica EC, Bonifacino JS, Eicher EM, Peters LL (Dec 2000). "Defects in the cappuccino (cno) gene on mouse chromosome 5 and human 4p cause Hermansky-Pudlak syndrome by an AP-3-independent mechanism". Blood96 (13): 4227–35. PMID11110696.
^ abStarcevic, Marta; Dell'Angelica Esteban C (Jul 2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1)". J. Biol. Chem. (United States) 279 (27): 28393–401. doi:10.1074/jbc.M402513200. ISSN0021-9258. PMID15102850.Cite uses deprecated parameters (help)
Starcevic M, Dell'Angelica EC (2004). "Identification of snapin and three novel proteins (BLOS1, BLOS2, and BLOS3/reduced pigmentation) as subunits of biogenesis of lysosome-related organelles complex-1 (BLOC-1).". J. Biol. Chem.279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID15102850.
Ota T, Suzuki Y, Nishikawa T, et al. (2004). "Complete sequencing and characterization of 21,243 full-length human cDNAs.". Nat. Genet.36 (1): 40–5. doi:10.1038/ng1285. PMID14702039.