Entity Details

Primary name D2HDH_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ8N465
EntryNameD2HDH_HUMAN
FullNameD-2-hydroxyglutarate dehydrogenase, mitochondrial
TaxID9606
Evidenceevidence at protein level
Length521
SequenceStatuscomplete
DateCreated2006-04-04
DateModified2021-06-02

Ontological Relatives

GenesD2HGDH

GO terms

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GOName
GO:0005739 mitochondrion
GO:0005759 mitochondrial matrix
GO:0006103 2-oxoglutarate metabolic process
GO:0010042 response to manganese ion
GO:0010043 response to zinc ion
GO:0032025 response to cobalt ion
GO:0044267 cellular protein metabolic process
GO:0051990 (R)-2-hydroxyglutarate dehydrogenase activity
GO:0071949 FAD binding

Subcellular Location

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Subcellular Location
Mitochondrion

Domains

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DomainNameCategoryType
IPR004113 FAD-linked oxidase, C-terminalDomainDomain
IPR006094 FAD linked oxidase, N-terminalDomainDomain
IPR016164 FAD-linked oxidase-like, C-terminalFamilyHomologous superfamily
IPR016166 FAD-binding domain, PCMH-typeDomainDomain
IPR016167 FAD-binding, type PCMH, subdomain 1FamilyHomologous superfamily
IPR016169 FAD-binding, type PCMH, subdomain 2FamilyHomologous superfamily
IPR016171 Vanillyl-alcohol oxidase, C-terminal subdomain 2FamilyHomologous superfamily
IPR036318 FAD-binding, type PCMH-like superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
600721 OMIMD-2-hydroxyglutaric aciduria 1 (D2HGA1)A rare recessive neurometabolic disorder causing developmental delay, epilepsy, hypotonia, and dysmorphic features. Both a mild and a severe phenotype exist. The severe phenotype is homogeneous and is characterized by early infantile-onset epileptic encephalopathy and cardiomyopathy. The mild phenotype has a more variable clinical presentation. Diagnosis is based on the presence of an excess of D-2-hydroxyglutaric acid in the urine. The disease is caused by variants affecting the gene represented in this entry.

Interactions

2 interactions

InteractorPartnerSourcesPublicationsLink
D2HDH_HUMANSTK11_HUMANBioGRID, MINT25640309 details
D2HDH_HUMANRAB25_HUMANIntAct17353931 details