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HMBS Full-Length MS Protein Standard

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Product Description


NameHMBS Full-Length MS Protein Standard
Cat#CPFL301362
Protein Namehydroxymethylbilane synthase
SymbolHMBS
SynonymsPBG-D; PBGD; PORC; UPS
AccessionNM_000190
Cytogenetic11q23.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionHMBS Full-Length MS Protein Standard (NP_000181), 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 member of the hydroxymethylbilane synthase superfamily. The encoded protein is the third enzyme of the heme biosynthetic pathway and catalyzes the head to tail condensation of four porphobilinogen molecules into the linear hydroxymethylbilane. Mutations in this gene are associated with the autosomal dominant disease acute intermittent porphyria. Alternatively spliced transcript variants encoding different isoforms have been described.

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