RDH12, Official Symbol RDH12provided by HGNC Official Full Name retinol dehydrogenase 12provided by HGNC Primary source HGNC:HGNC:19977 See related Ensembl:ENSG00000139988 MIM:608830; AllianceGenome:HGNC:19977 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as RP53; LCA13; SDR7C2 Summary 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 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015] Expression Biased expression in skin (RPKM 21.6), gall bladder (RPKM 10.8) and 4 other tissues See more Orthologs mouse all