Entity Details

Primary name ODC_HUMAN
Entity type UniProt
Source Source Link

Details

AccessionQ9BQT8
EntryNameODC_HUMAN
FullNameMitochondrial 2-oxodicarboxylate carrier
TaxID9606
Evidenceevidence at protein level
Length299
SequenceStatuscomplete
DateCreated2002-02-11
DateModified2021-06-02

Ontological Relatives

GenesSLC25A21

GO terms

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GOName
GO:0005743 mitochondrial inner membrane
GO:0006554 lysine catabolic process
GO:0015139 alpha-ketoglutarate transmembrane transporter activity
GO:0016021 integral component of membrane
GO:1990550 mitochondrial alpha-ketoglutarate transmembrane transport

Subcellular Location

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Subcellular Location
Mitochondrion inner membrane

Domains

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DomainNameCategoryType
IPR002067 Mitochondrial carrier proteinFamilyFamily
IPR018108 Mitochondrial substrate/solute carrierRepeatRepeat
IPR023395 Mitochondrial carrier domain superfamilyFamilyHomologous superfamily

Diseases

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Disease IDSourceNameDescription
618811 OMIMMitochondrial DNA depletion syndrome 18 (MTDPS18)An autosomal recessive mitochondrial disorder characterized by early-onset progressive weakness and atrophy of the distal limb muscles, loss of ambulation, and atrophy of the intrinsic hand muscles with clawed hands. Additional features include scoliosis, hypo- or hyperreflexia, and decreased pulmonary vital capacity. Examination of skeletal muscle shows mitochondrial respiratory chain deficiencies involving complexes I and IV, associated with mtDNA depletion. The disease may be caused by variants affecting the gene represented in this entry.

Drugs

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DrugNameSourceType
DB09154 Sodium citrateSwissprotsmall molecule

Interactions

0 interactions

InteractorPartnerSourcesPublicationsLink