功能： catalytic activity:Isocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADH.,cofactor:Binds 1 magnesium or manganese ion per subunit.,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.,similarity:Belongs to the isocitrate and isopropylmalate dehydrogenases family.,subunit:Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1.,
功能： catalytic activity:Isocitrate + NAD(+) = 2-oxoglutarate + CO(2) + NADH.,cofactor:Binds 1 magnesium or manganese ion per subunit.,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.,similarity:Belongs to the isocitrate and isopropylmalate dehydrogenases family.,subunit:Heterooligomer of subunits alpha, beta, and gamma in the apparent ratio of 2:1:1.,
在线咨询
湘公网安备