D2HGDH

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.^[5][6][7]

AliasesD2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase

External IDsOMIM: 609186; MGI: 2138209; HomoloGene: 5534; GeneCards: D2HGDH; OMA:D2HGDH - orthologs

Chr.Chromosome 2 (human)^[1]

End241,768,816 bp^[1]

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D2HGDH
Identifiers
Aliases	D2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase
External IDs	OMIM: 609186; MGI: 2138209; HomoloGene: 5534; GeneCards: D2HGDH; OMA:D2HGDH - orthologs
Gene location (Human) Chr. Chromosome 2 (human)[1] Band 2q37.3 Start 241,734,602 bp[1] End 241,768,816 bp[1]
Gene location (Mouse) Chr. Chromosome 1 (mouse)[2] Band 1|1 D Start 93,752,631 bp[2] End 93,780,070 bp[2]
RNA expression pattern Bgee Human Mouse (ortholog) Top expressed in right uterine tube pancreatic ductal cell tendon of biceps brachii left lobe of thyroid gland right lobe of thyroid gland anterior pituitary skin of abdomen right lobe of liver left ovary transverse colon Top expressed in left lobe of liver otolith organ utricle interventricular septum Rostral migratory stream ascending aorta hand semi-lunar valve Paneth cell ciliary body More reference expression data BioGPS n/a
Gene ontology Molecular function oxidoreductase activity catalytic activity flavin adenine dinucleotide binding oxidoreductase activity, acting on CH-OH group of donors D-lactate dehydrogenase (cytochrome) activity (R)-2-hydroxyglutarate dehydrogenase activity FAD binding Cellular component mitochondrial matrix mitochondrion extrinsic component of cytoplasmic side of plasma membrane Biological process response to calcium ion response to zinc ion response to magnesium ion response to cobalt ion response to manganese ion 2-oxoglutarate metabolic process lactate oxidation respiratory electron transport chain Sources:Amigo / QuickGO
Orthologs Species Human Mouse Entrez 728294 98314 Ensembl ENSG00000180902 ENSMUSG00000073609 UniProt Q8N465 Q8CIM3 RefSeq (mRNA) NM_001287249 NM_152783 NM_001352824 NM_178882 NM_001310767 RefSeq (protein) NP_001274178 NP_689996 NP_001339753 NP_001297696 NP_849213 Location (UCSC) Chr 2: 241.73 – 241.77 Mb Chr 1: 93.75 – 93.78 Mb PubMed search [3] [4]
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This gene encodes D-2hydroxyglutarate dehydrogenase is 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.^[7]