MGP Database

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MGP001555

UniProt Annotations

Entry Information
Gene Nameisocitrate dehydrogenase 3 (NAD+) beta
Protein Entry
UniProt ID
SpeciesHuman
Comments
Comment typeDescription
Alternative ProductsEvent=Alternative splicing; Named isoforms=3; Name=B; IsoId=O43837-1; Sequence=Displayed; Name=A; IsoId=O43837-2; Sequence=VSP_002462; Name=C; IsoId=O43837-3; Sequence=VSP_041335;
Catalytic ActivityIsocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADH.
CofactorName=Mg(2+); Xref=ChEBI:CHEBI:18420; Evidence={ECO:0000250}; Name=Mn(2+); Xref=ChEBI:CHEBI:29035; Evidence={ECO:0000250}; Note=Binds 1 Mg(2+) or Mn(2+) ion per subunit. {ECO:0000250};
DiseaseRetinitis pigmentosa 46 (RP46) [MIM:612572]: A retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa is characterized by retinal pigment deposits visible on fundus examination and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptors. Patients typically have night vision blindness and loss of midperipheral visual field. As their condition progresses, they lose their far peripheral visual field and eventually central vision as well. {ECO:0000269|PubMed:18806796}. Note=The disease is caused by mutations affecting the gene represented in this entry.
SimilarityBelongs to the isocitrate and isopropylmalate dehydrogenases family. {ECO:0000305}.
Subcellular LocationMitochondrion.
SubunitHeterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1. {ECO:0000250}.
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