Entity Details

Primary name L2HDH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9H9P8
EntryNameL2HDH_HUMAN
FullNameL-2-hydroxyglutarate dehydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length463
SequenceStatuscomplete
DateCreated2006-03-21
DateModified2021-04-07

Ontological Relatives

GenesL2HGDH

GO terms

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GOName
GO:0003973 (S)-2-hydroxy-acid oxidase activity
GO:0005739 mitochondrion
GO:0005743 mitochondrial inner membrane
GO:0006103 2-oxoglutarate metabolic process
GO:0016021 integral component of membrane
GO:0031305 integral component of mitochondrial inner membrane
GO:0044267 cellular protein metabolic process
GO:0047545 2-hydroxyglutarate dehydrogenase activity

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR006076 FAD dependent oxidoreductaseDomainDomain
IPR036188 FAD/NAD(P)-binding domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
236792 OMIML-2-hydroxyglutaric aciduria (L2HGA)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. The disease is caused by variants affecting the gene represented in this entry.

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