Entrez Summary: This gene encodes L-2-hydroxyglutarate dehydrogenase, a FAD-dependent enzyme that oxidizes L-2-hydroxyglutarate to alpha-ketoglutarate in a variety of mammalian tissues. Mutations in this gene cause L-2-hydroxyglutaric aciduria, a rare autosomal recessive neurometabolic disorder resulting in moderate to severe cognitive disability. [provided by RefSeq, Jul 2008].
UniProt Summary: N/A
Pfam DomainsGO Terms
Pfam Domains
DAO
GO Terms
2-hydroxyglutarate dehydrogenase activity
(S)-2-hydroxy-acid oxidase activity
2-oxoglutarate metabolic process
integral component of mitochondrial inner membrane
dicarboxylic acid metabolic process
mitochondrial inner membrane
cofactor metabolic process
carboxylic acid metabolic process
oxidation-reduction process
oxoacid metabolic process
organic acid metabolic process
mitochondrion
small molecule metabolic process
CRISPR Data
Compound HitMost Correlated Genes in ChemogenomicsTissues where Essential in the Avana Dataset (DepMap 20Q1)