Hermansky–Pudlak syndrome 3 protein is a protein that in humans is encoded by the HPS3gene.[5][6]
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.[6]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^Anikster Y, Huizing M, White J, Shevchenko YO, Fitzpatrick DL, Touchman JW, Compton JG, Bale SJ, Swank RT, Gahl WA, Toro JR (Jul 2001). "Mutation of a new gene causes a unique form of Hermansky–Pudlak syndrome in a genetic isolate of central Puerto Rico". Nat Genet. 28 (4): 376–80. doi:10.1038/ng576. PMID11455388. S2CID418425.
Huizing M, Gahl WA (2003). "Disorders of vesicles of lysosomal lineage: the Hermansky–Pudlak syndromes". Curr. Mol. Med. 2 (5): 451–67. doi:10.2174/1566524023362357. PMID12125811.
Suzuki T, Li W, Zhang Q, et al. (2002). "The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky–Pudlak syndrome-3 gene". Genomics. 78 (1–2): 30–7. doi:10.1006/geno.2001.6644. PMID11707070.
