EC=1.1.1.41
Catalytic activity
Isocitrate + NAD+ = 2-oxoglutarate + CO2 + NADH.
Cofactor
Binds 1 magnesium or manganese ion per subunit By similarity.
Subunit structure
Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1 By similarity.
Subcellular location
Mitochondrion.
Involvement in disease
Defects in IDH3B are the cause of retinitis pigmentosa type 46 (RP46) [MIM:612572]. RP is a retinal dystrophy belonging to the group of pigmentary retinopathies. RP 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. Ref.9
Sequence similarities
Belongs to the isocitrate and isopropylmalate dehydrogenases family.
