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D2-Hydroxyglutarate Dehydrogenase (D2HGDH)

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D2HGD

D2-Hydroxyglutarate Dehydrogenase (D2HGDH)
CCC J299
HGNC 28358
MGI 2138209
PubMed 21625441
RGD 1307976
UniProt Q8N465
Wiki D2HGDH
D2HGDH 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.
Subcellular fractionation of rat livers indicated that rat D2hgdh was present in the mitochondrial fraction. Assays of D-2-hydroxyglutarate dehydrogenase in rat tissues indicated that this enzyme is most active in liver and kidney but is also active in heart and brain .

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins RPJ299Hu01 Recombinant D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Positive Control; Immunogen; SDS-PAGE; WB.
Antibodies PAJ299Hu01 Polyclonal Antibody to D2-Hydroxyglutarate Dehydrogenase (D2HGDH) WB; IHC; ICC; IP.
MAJ299Hu21 Monoclonal Antibody to D2-Hydroxyglutarate Dehydrogenase (D2HGDH) WB; IHC; ICC; IP.
Assay Kits SEJ299Hu ELISA Kit for D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Enzyme-linked immunosorbent assay for Antigen Detection.

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for D2-Hydroxyglutarate Dehydrogenase (D2HGDH) CLIA Kit Customized Service Offer
n/a ELISA Kit for D2-Hydroxyglutarate Dehydrogenase (D2HGDH) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to D2-Hydroxyglutarate Dehydrogenase (D2HGDH) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for D2-Hydroxyglutarate Dehydrogenase (D2HGDH) CLIA Kit Customized Service Offer
n/a ELISA Kit for D2-Hydroxyglutarate Dehydrogenase (D2HGDH) ELISA Kit Customized Service Offer
  1. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  2. "Generation and annotation of the DNA sequences of human chromosomes 2 and 4." Nature 434:724-731(2005) [PubMed] [Europe PMC] [Abstract]
  3. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  4. "Identification of a dehydrogenase acting on D-2-hydroxyglutarate."Biochem. J. 381:35-42(2004) [PubMed] [Europe PMC] [Abstract]
  5. "Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria."Am. J. Hum. Genet. 76:358-360(2005) [PubMed] [Europe PMC] [Abstract]
  6. "Mutations in phenotypically mild D-2-hydroxyglutaric aciduria."Ann. Neurol. 58:626-630(2005) [PubMed] [Europe PMC] [Abstract]
  7. "Phenotypic heterogeneity in the presentation of D-2-hydroxyglutaric aciduria in monozygotic twins."Mol. Genet. Metab. 86:200-205(2005) [PubMed] [Europe PMC] [Abstract]
  8. "D-2-Hydroxyglutaric aciduria in three patients with proven SSADH deficiency: genetic coincidence or a related biochemical epiphenomenon?"Mol. Genet. Metab. 88:53-57(2006) [PubMed] [Europe PMC] [Abstract]