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HFE Full-Length MS Protein Standard

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Product Description


NameHFE Full-Length MS Protein Standard
Cat#CPFL317447
Protein Namehemochromatosis
SymbolHFE
SynonymsHFE1; HH; HLA-H; MVCD7; TFQTL2
AccessionNM_000410
Cytogenetic6p21.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionHFE Full-Length MS Protein Standard (NP_000401), 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. The protein encoded by this gene is a membrane protein that is similar to MHC class I-type proteins and associates with beta2-microglobulin (beta2M). It is thought that this protein functions to regulate iron absorption by regulating the interaction of the transferrin receptor with transferrin. The iron storage disorder, hereditary haemochromatosis, is a recessive genetic disorder that results from defects in this gene. At least nine alternatively spliced variants have been described for this gene. Additional variants have been found but their full-length nature has not been determined.

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