IDH3G
Description
The IDH3G (isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit gamma) is a protein-coding gene located on chromosome X.
IDH3G, also known as Isocitrate dehydrogenase [NAD] subunit gamma, mitochondrial, is an enzyme that plays a role in the tricarboxylic acid cycle. It is one of the five isocitrate dehydrogenases (IDHs) in humans, which catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. IDH3G is the gamma subunit of one of the three NAD(+)-dependent isocitrate dehydrogenases, which localize to the mitochondrial matrix. Each isozyme is a heterotetramer composed of two alpha subunits, one beta subunit, and one gamma subunit. IDH3G is a candidate gene for periventricular heterotopia, a condition where brain tissue is located in an abnormal place. Several alternatively spliced transcript variants of this gene have been described.
IDH3G is a regulatory subunit involved in the allosteric regulation of the enzyme that catalyzes the decarboxylation of isocitrate (ICT) into alpha-ketoglutarate. It forms heterodimers with the alpha (IDH3A) and beta (IDH3B) subunits, as well as with the alpha (IDH3A) subunit alone. These heterodimers exhibit some basal activity, but the full activity of the enzyme requires the assembly and cooperative function of both heterodimers to form a heterotetramer containing two IDH3A, one IDH3B, and one IDH3G subunit.
IDH3G is also known as H-IDHG.
Associated Diseases
- neuronal ceroid lipofuscinosis 1
- familial isolated congenital asplenia
- achalasia-alacrima syndrome
- nonpapillary renal cell carcinoma
- glioblastoma
- cancer
