|Other Accession||NP_872577.1, NP_000186.2|
|Other Names||Hermansky-Pudlak syndrome 1 protein, HPS1, HPS|
|Format||Synthetic peptide was lyophilized with 100% acetonitrile and is supplied as a powder. Reconstitute with 0.1 ml DI water for a final concentration of 1 mg/ml.|
|Storage||Maintain refrigerated at 2-8°C for up to 6 months. For long term storage store at -20°C.|
|Precautions||This product is for research use only. Not for use in diagnostic or therapeutic procedures.|
|Function||Component of multiple cytoplasmic organelles. Apparently crucial for their normal development and function. May be involved in intracellular protein sorting.|
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This gene encodes a protein that may play a role inorganelle biogenesis associated with melanosomes, platelet densegranules, and lysosomes. The encoded protein is a component ofthree different protein complexes termed biogenesis oflysosome-related organelles complex (BLOC)-3, BLOC4, and BLOC5.Mutations in this gene are associated with Hermansky-Pudlaksyndrome type 1. Multiple transcript variants encoding distinctisoforms have been identified for this gene; the full-lengthsequences of some of these have not been determined yet. [providedby RefSeq].
Sandrock, K., et al. Klin Padiatr 222(3):168-174(2010)Kloer, D.P., et al. J. Biol. Chem. 285(10):7794-7804(2010)Wei, A., et al. J. Invest. Dermatol. 130(3):716-724(2010)Wei, A., et al. J. Dermatol. Sci. 56(2):130-132(2009)Fernandez, L.P., et al. Exp. Dermatol. 18(7):634-642(2009)
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