D2HGDH, cDNA Clone

For Research Use Only. Not for use in diagnostic procedures.

Manufactured in an ISO 13485:2003 and EN ISO 13485:2012 Certified Laboratory.

Small volumes of D2HGDH cdna clone vial(s) may occasionally become entrapped in the seal of the product vial during shipment and storage. If necessary, briefly centrifuge the vial on a tabletop centrifuge to dislodge any liquid in the container`s cap. Certain products may require to ship with dry ice and additional dry ice fee may apply.

34,173 Da

D-2-hydroxyglutarate dehydrogenase

D-2-hydroxyglutarate dehydrogenase, mitochondrial

D-2-hydroxyglutarate dehydrogenase, mitochondrial

D2HGD  [Similar Products]

D2HDH_HUMAN

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. [provided by RefSeq, Jul 2008]

D2HGDH: an oxidoreductase that act on the CH-OH group of donor with other acceptors. Catalyzes the oxidation of D-2-hydroxyglutarate (2HG) to alpha-ketoglutarate. Belongs to the FAD-binding oxidoreductase/transferase type 4 family. 2 human isoforms produced by alternative splicing. Defects in D2HGDH are the cause of D-2-hydroxyglutaric aciduria (D2HGA), a rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine.

Protein type: Mitochondrial; Oxidoreductase; EC 1.1.99.-

Chromosomal Location of Human Ortholog: 2q37.3

Cellular Component: mitochondrial matrix; mitochondrion

Molecular Function: (R)-2-hydroxyglutarate dehydrogenase activity

Biological Process: 2-oxoglutarate metabolic process; cellular protein metabolic process; response to calcium ion; response to cobalt ion; response to magnesium ion; response to manganese ion; response to zinc ion

Disease: D-2-hydroxyglutaric Aciduria 1

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