The application notes include recommended starting dilutions; optimal dilutions/concentrations should be determined by the end user.
Use a concentration of 0.03 - 0.1 µg/ml. Predicted molecular weight: 42 kDa.
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.
Belongs to the isocitrate and isopropylmalate dehydrogenases family.