Short chain dehydrogenase/reductase family 7C member 2
功能Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments.
组织特异性Widely expressed, mostly in eye, kidney, brain, skeletal msucle and stomach.
疾病相关Defects in RDH12 are the cause of Leber congenital amaurosis type 13 (LCA13) [MIM:612712]. LCA designates a clinically and genetically heterogeneous group of childhood retinal degenerations, generally inherited in an autosomal recessive manner. Affected infants have little or no retinal photoreceptor function as tested by electroretinography. LCA represents the most common genetic cause of congenital visual impairment in infants and children. Defects in RDH12 are the cause of retinitis pigmentosa type 53 (RP53) [MIM:612712]. RP53 is a retinal dystrophy belonging to the group of pigmentary retinopathies. Retinitis pigmentosa 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.
序列相似性Belongs to the short-chain dehydrogenases/reductases (SDR) family.