Recombinant Human Retinol dehydrogenase 12 (RDH12)

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 (PubMed:12226107, PubMed:15865448). Also exhibits activity, albeit with lower affinity than for retinaldehydes, towards lipid peroxidation products (C9 aldehydes) such as 4-hydroxynonenal and trans-2-nonenal (PubMed:15865448, PubMed:19686838). May play an important function in photoreceptor cells to detoxify 4-hydroxynonenal and potentially other toxic aldehyde products resulting from lipid peroxidation (PubMed:19686838). Has no dehydrogenase activity towards steroids (PubMed:12226107, PubMed:15865448)

Subcellular Location

Endoplasmic reticulum membrane

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]

Tissue Specificity

Widely expressed, mostly in retina, kidney, brain, skeletal muscle, pancreas and stomach

Pathway

Cofactor metabolism; retinol metabolism

• Ota T. et al. Complete sequencing and characterization of 21,243 full-length human cDNAs. — Nat. Genet. (2004)
• Heilig R. et al. The DNA sequence and analysis of human chromosome 14. — Nature (2003)
• Mural R.J. et al. PubMed: CI-5GBDQ6B103N1E (JUL-)
• The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). — Genome Res. (2004)
• Haeseleer F. et al. Dual-substrate specificity short chain retinol dehydrogenases from the vertebrate retina. — J. Biol. Chem. (2002)
• Belyaeva O.V. et al. Biochemical properties of purified human retinol dehydrogenase 12 (RDH12): catalytic efficiency toward retinoids and C9 aldehydes and effects of cellular retinol-binding protein type I (CRBPI) and cellular retinaldehyde-binding protein (CRALBP) on the oxidation and reduction of retinoids. — Biochemistry (2005)
• Marchette L.D. et al. Retinol dehydrogenase 12 detoxifies 4-hydroxynonenal in photoreceptor cells. — Free Radic. Biol. Med. (2010)
• Perrault I. et al. Retinal dehydrogenase 12 (RDH12) mutations in Leber congenital amaurosis. — Am. J. Hum. Genet. (2004)