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D2HGDH Full-Length MS Protein Standard

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Product Description


NameD2HGDH Full-Length MS Protein Standard
Cat#CPFL307367
Protein NameD-2-hydroxyglutarate dehydrogenase
SymbolD2HGDH
SynonymsD2HGD
AccessionNM_152783
Cytogenetic2q37.3
Amino Acid Labeled[U- 13C6, 15N4]-L-Arg and [U- 13C6, 15N2]-L-Lys
DescriptionD2HGDH Full-Length MS Protein Standard (NP_689996), 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 D-2hydroxyglutarate dehydrogenase, a mitochondrial enzyme belonging to the FAD-binding oxidoreductase/transferase type 4 family. This enzyme, which is most active in liver and kidney but also active in heart and brain, converts D-2-hydroxyglutarate to 2-ketoglutarate. Mutations in this gene are present in D-2-hydroxyglutaric aciduria, a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features.

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