RDH5, Official Symbol RDH5provided by HGNC Official Full Name retinol dehydrogenase 5provided by HGNC Primary source HGNC:HGNC:9940 See related Ensembl:ENSG00000135437 MIM:601617; AllianceGenome:HGNC:9940 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 RDH1; 9cRDH; SDR9C5; HSD17B9 Summary This gene encodes an enzyme belonging to the short-chain dehydrogenases/reductases (SDR) family. This retinol dehydrogenase functions to catalyze the final step in the biosynthesis of 11-cis retinaldehyde, which is the universal chromophore of visual pigments. Mutations in this gene cause autosomal recessive fundus albipunctatus, a rare form of night blindness that is characterized by a delay in the regeneration of cone and rod photopigments. Alternative splicing results in multiple transcript variants. Read-through transcription also exists between this gene and the neighboring upstream BLOC1S1 (biogenesis of lysosomal organelles complex-1, subunit 1) gene. [provided by RefSeq, Dec 2010] Expression Biased expression in fat (RPKM 73.0), liver (RPKM 14.5) and 5 other tissues See more Orthologs mouse all