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HPS1 Full-Length MS Protein Standard

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Product Description


NameHPS1 Full-Length MS Protein Standard
Cat#CPFL313679
Protein NameHermansky-Pudlak syndrome 1
SymbolHPS1
SynonymsHPS
AccessionNM_182639
Cytogenetic10q23.1-q23.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionHPS1 Full-Length MS Protein Standard (NP_872577), Labeled with [U- 13C6, 15N4]-L-Arginine and [U- 13C6, 15N2]-L-Lysine, was produced in human 293 cells (HEK293) with fully chemically defined cell culture medium to obtain incorporation efficiency at Creative-Proteomics. This gene encodes a protein that may play a role in organelle biogenesis 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.

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