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MGP005942

UniProt Annotations

Entry Information
Gene NameL-2-hydroxyglutarate dehydrogenase
Protein EntryL2HDH_HUMAN
UniProt IDQ9H9P8
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=2; Name=1; IsoId=Q9H9P8-1; Sequence=Displayed; Name=2; IsoId=Q9H9P8-2; Sequence=VSP_017662, VSP_017663; Note=No experimental confirmation available.;
Biophysicochemical PropertiesKinetic parameters: KM=800 uM for L-2-hydroxyglutarate {ECO:0000269|PubMed:16005139};
Catalytic Activity(S)-2-hydroxyglutarate + acceptor = 2- oxoglutarate + reduced acceptor. {ECO:0000269|PubMed:16005139}.
CofactorName=FAD; Xref=ChEBI:CHEBI:57692; Evidence={ECO:0000269|PubMed:16005139};
DiseaseL-2-hydroxyglutaric aciduria (L2HGA) [MIM:236792]: A rare autosomal recessive disorder clinically characterized by mild psychomotor delay in the first years of life, followed by progressive cerebellar ataxia, dysarthria and moderate to severe mental retardation. Diagnosis is based on the presence of an excess of L-2-hydroxyglutaric acid in urine, blood and cerebrospinal fluid. {ECO:0000269|PubMed:15385440, ECO:0000269|PubMed:15548604, ECO:0000269|PubMed:16134148}. Note=The disease is caused by mutations affecting the gene represented in this entry.
MiscellaneousWas named 'duranin' in honor of Marinus Duran, who first described L-2-hydroxyglutaric aciduria.
SimilarityBelongs to the L2HGDH family. {ECO:0000305}.
Subcellular LocationMitochondrion {ECO:0000269|PubMed:16005139}.
Tissue SpecificityWidely expressed. Highly expressed in brain, testis and muscle. Expressed to a lower extent in lymphocytes, fibroblasts, keratinocytes, placenta, bladder, small intestine, liver and bone marrow. {ECO:0000269|PubMed:15385440}.
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