D2HGDH

D2HGDH
Identifiers
Aliases	D2HGDH, D2HGD, D-2-hydroxyglutarate dehydrogenase
External IDs	MGI: 2138209 HomoloGene: 5534 GeneCards: D2HGDH
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 Biological process • response to calcium ion • cellular protein metabolic process • response to zinc ion • response to magnesium ion • response to cobalt ion • response to manganese ion • oxidation-reduction process • 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_178882 NM_001310767
RefSeq (protein)	NP_001274178 NP_689996	NP_849213.2 NP_001297696 NP_849213
Location (UCSC)	Chr 2: 241.73 – 241.77 Mb	Chr 1: 93.82 – 93.85 Mb
PubMed search

728294

98314

ENSG00000180902

ENSMUSG00000073609

Q8N465

Q8CIM3

NM_001287249
NM_152783

NM_178882
NM_001310767

NP_001274178
NP_689996

NP_849213.2
NP_001297696
NP_849213

D-2-hydroxyglutarate dehydrogenase, mitochondrial is an enzyme that in humans is encoded by the D2HGDH gene.

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.

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