This gene encodes a component of BLOC-1 (biogenesis of lysosome-related organelles complex 1). Components of this complex are involved in the biogenesis of organelles such as melanosomes and platelet-dense granules. A mouse model for Hermansky–Pudlak syndrome is mutated in the murine version of this gene. Some transcripts of the downstream gene TXNDC5 overlap this gene, but they do not contain an open reading frame for this gene.[2]
↑ 3.03.13.2Starcevic M, Dell'Angelica EC (July 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)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID15102850.
↑Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules". The Journal of Biological Chemistry. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID12019270.
Further reading
Falcón-Pérez JM, Starcevic M, Gautam R, Dell'Angelica EC (August 2002). "BLOC-1, a novel complex containing the pallidin and muted proteins involved in the biogenesis of melanosomes and platelet-dense granules". The Journal of Biological Chemistry. 277 (31): 28191–9. doi:10.1074/jbc.M204011200. PMID12019270.
Moriyama K, Bonifacino JS (September 2002). "Pallidin is a component of a multi-protein complex involved in the biogenesis of lysosome-related organelles". Traffic. 3 (9): 666–77. doi:10.1034/j.1600-0854.2002.30908.x. PMID12191018.
Ciciotte SL, Gwynn B, Moriyama K, Huizing M, Gahl WA, Bonifacino JS, Peters LL (June 2003). "Cappuccino, a mouse model of Hermansky-Pudlak syndrome, encodes a novel protein that is part of the pallidin-muted complex (BLOC-1)". Blood. 101 (11): 4402–7. doi:10.1182/blood-2003-01-0020. PMID12576321.
Starcevic M, Dell'Angelica EC (July 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)". The Journal of Biological Chemistry. 279 (27): 28393–401. doi:10.1074/jbc.M402513200. PMID15102850.