NP_001274178.1
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NCBI GenBank Nucleotide #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
34,173 Da
NCBI Official Full Name
D-2-hydroxyglutarate dehydrogenase, mitochondrial isoform 2
NCBI Official Synonym Full Names
D-2-hydroxyglutarate dehydrogenase
NCBI Official Synonym Symbols
NCBI Protein Information
D-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Protein Name
D-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Synonym Gene Names
UniProt Entry Name
D2HDH_HUMAN
NCBI Summary for D2HGDH
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]
UniProt Comments for D2HGDH
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: Oxidoreductase; EC 1.1.99.-; Mitochondrial
Chromosomal Location of Human Ortholog: 2q37.3
Cellular Component: mitochondrial matrix; mitochondrion
Molecular Function: (R)-2-hydroxyglutarate dehydrogenase activity; FAD binding
Biological Process: 2-oxoglutarate metabolic process; cellular 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
Research Articles on D2HGDH
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Products associated with D2HGDH elisa kit
Pathways associated with D2HGDH elisa kit
Diseases associated with D2HGDH elisa kit
Organs/Tissues associated with D2HGDH elisa kit
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