DISEASES

Disease-gene associations mined from literature

Literature associating IDH3A and infantile cerebellar-retinal degeneration

IDH3A [ENSP00000299518]

Isocitrate dehydrogenase [NAD] subunit alpha, mitochondrial; Catalytic subunit of the enzyme which catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. The heterodimer composed of the alpha (IDH3A) and beta (IDH3B) subunits and the heterodimer composed of the alpha (IDH3A) and gamma (IDH3G) subunits, have considerable basal activity but the full activity of the heterotetramer (containing two subunits of IDH3A, one of IDH3B and one of IDH3G) requires the assembly and cooperative function of both heterodimers.

Synonyms:  IDH3A,  IDH3Ap,  hIDH3A,  B4DJB4,  B7Z9J8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM