IDH1-R132S monoclonal antibody (SMAb-1)

Mutations in the IDH 1 gene are commonly found in human gliomas. The Arginine to Serine substitution at amino acid 132 seen in gliomas, abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alphaketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2- hydroxyglutarate.

Isocitrate dehydrogenase 1 (NADP+), soluble is an enzyme that in humans is encoded by the IDH1 gene. Isocitrate dehydrogenases catalyze the oxidative decarboxylation of isocitrate to 2-oxoglutarate. IDH1 is one of three isocitrate dehydrogenase isozymes, the other two being IDH2 and IDH3. IDH1 mutations are heterozygous, typically involving an amino acid substitution in the active site of the enzyme in codon 132. The mutation results in a loss of normal enzymatic function and the abnormal production of 2-hydroxyglutarate (2-HG). Mutations in IDH1 are often the first hit in the development of diffuse gliomas, suggesting IDH1 mutations as key events in the formation of these brain tumors.