RDH12

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]

Full Name

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

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:15865448, PubMed:12226107).
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:19686838, PubMed:15865448).
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:15865448, PubMed:12226107).

Biological Process

Biological Process cellular detoxification of aldehydeManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process photoreceptor cell maintenanceManual Assertion Based On ExperimentTAS:UniProtKB
Biological Process retinoid metabolic processTAS:Reactome
Biological Process retinol metabolic processManual Assertion Based On ExperimentIDA:UniProtKB
Biological Process visual perceptionManual Assertion Based On ExperimentIMP:UniProtKB

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

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.
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.