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HPS4 Full-Length MS Protein Standard

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Product Description


NameHPS4 Full-Length MS Protein Standard
Cat#CPFL309000
Protein NameHermansky-Pudlak syndrome 4
SymbolHPS4
SynonymsLE
AccessionNM_022081
Cytogenetic22cen-q12.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionHPS4 Full-Length MS Protein Standard (NP_071364), 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 component of biogenesis of lysosome-related organelles complexes (BLOC). BLOC complexes are important for the formation of endosomal-lysosomal organelles such as melanosomes and platelet dense granules. Mutations in this gene result in subtype 4 of Hermansky-Pudlak syndrome, a form of albinism. Alternative splicing results in multiple transcript variants.

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