Hermansky–Pudlak syndrome 1 protein is a protein that in humans is encoded by the HPS1gene.[5][6][7]
This gene encodes a protein that may play a role in organellebiogenesis associated with melanosomes, platelet dense granules, and lysosomes. The encoded protein is a component of three different protein complexes termed biogenesis of lysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5. Mutations in this gene are associated with Hermansky–Pudlak syndrome type 1. Multiple transcript variants encoding distinct isoforms have been identified for this gene; the full-length sequences of some of these have not been determined yet.[7]
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.
Oh J, Bailin T, Fukai K, et al. (1996). "Positional cloning of a gene for Hermansky–Pudlak syndrome, a disorder of cytoplasmic organelles". Nat. Genet. 14 (3): 300–6. doi:10.1038/ng1196-300. PMID8896559. S2CID25296741.
Horikawa T, Araki K, Fukai K, et al. (2000). "Heterozygous HPS1 mutations in a case of Hermansky–Pudlak syndrome with giant melanosomes". Br. J. Dermatol. 143 (3): 635–40. doi:10.1111/j.1365-2133.2000.03725.x. PMID10971344. S2CID9586360.
Suzuki T, Li W, Zhang Q, et al. (2002). "Hermansky–Pudlak syndrome is caused by mutations in HPS4, the human homolog of the mouse light-ear gene". Nat. Genet. 30 (3): 321–4. doi:10.1038/ng835. PMID11836498. S2CID2470873.