NP_849213.2
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NCBI GenBank Nucleotide #
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UniProt Primary Accession #
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UniProt Secondary Accession #
UniProt Related Accession #
Molecular Weight
58,576 Da
NCBI Official Full Name
D-2-hydroxyglutarate dehydrogenase, mitochondrial
NCBI Official Synonym Full Names
D-2-hydroxyglutarate dehydrogenase
NCBI Protein Information
D-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Protein Name
D-2-hydroxyglutarate dehydrogenase, mitochondrial
UniProt Entry Name
D2HDH_MOUSE
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; Mitochondrial; EC 1.1.99.-
Cellular Component: mitochondrion
Molecular Function: UDP-N-acetylmuramate dehydrogenase activity; limonene-1,2-diol dehydrogenase activity; FAD binding; (R)-2-hydroxyglutarate dehydrogenase activity; oxidoreductase activity; catalytic activity; oxidoreductase activity, acting on CH-OH group of donors
Biological Process: response to manganese ion; response to magnesium ion; cellular protein metabolic process; response to zinc ion; response to cobalt ion; response to calcium ion
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Products associated with D2HGDH elisa kit
Pathways associated with D2HGDH elisa kit
Organs/Tissues associated with D2HGDH elisa kit
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