Disease-gene associations mined from literature

Literature associating IDH3G and Maffucci syndrome

IDH3G [ENSP00000217901]

Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial; Regulatory subunit which plays a role in the allosteric regulation of the enzyme catalyzing 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:  IDH3G,  IDH3Gp,  hIDH3G,  D3DWV9,  E7EQB8 ...

Linkouts:  STRING  Pharos  UniProt  OMIM