Retinol Dehydrogenase 12 (RDH12) Human Recombinant Protein

The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]

RDH12: 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. Defects in RDH12 are the cause of Leber congenital amaurosis type 13 (LCA13). 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). 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. Belongs to the short-chain dehydrogenases/reductases (SDR) family.

Protein type: EC 1.1.1.-; Oxidoreductase; Cofactor and Vitamin Metabolism - retinol

Chromosomal Location of Human Ortholog: 14q24.1

Cellular Component: intracellular

Molecular Function: protein binding; retinol dehydrogenase activity

Biological Process: phototransduction, visible light; visual perception; retinol metabolic process; photoreceptor cell maintenance; retinoid metabolic process

Disease: Leber Congenital Amaurosis 13