Function
Retinoids dehydrogenase/reductase with a clear preference for NADP. Displays high activity towards 9-cis, 11-cis and all-trans-retinal. Shows very weak activity towards 13-cis-retinol.
Biological Context
Subcellular Location: Endoplasmic reticulum membrane
Tissue Specificity: Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach
Disease Association: Leber congenital amaurosis 13 (LCA13) : A severe dystrophy of the retina, typically becoming evident in the first years of life. Visual function is usually poor and often accompanied by nystagmus, sluggish or near-absent pupillary responses, photophobia, high hyperopia and keratoconus. [The disease is caused by variants affecting the gene represented in this entry] | Retinitis pigmentosa 53 (RP53) : 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. RP53 inheritance is autosomal dominant or autosomal recessive. [The disease is caused by variants affecting the gene represented in this entry]
Pathway: Cofactor metabolism; retinol metabolism
Product Specifications
Recombinant Human Retinol dehydrogenase 12 (RDH12) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-316aa, with N-terminal 6xHis-SUMO-tagged tag, molecular weight 51.1kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications. Explore more Enzyme proteins →
