Gene: RDH5 (retinol dehydrogenase 5) Homo sapiens
Symbol: RDH5
Name: retinol dehydrogenase 5
Description: 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]
Type: protein-coding
RefSeq Status: REVIEWED
Also known as: 11-cis RDH; 11-cis retinol dehydrogenase; 11-cis RoDH; 9-cis retinol dehydrogenase; 9-cis-retinol specific dehydrogenase; 9cRDH; FLJ39337; FLJ97089; HSD17B9; OTTHUMP00000242975; OTTHUMP00000242976; OTTHUMP00000242988; RDH1; retinol dehydrogenase 1; retinol dehydrogenase 5 (11-cis and 9-cis); retinol dehydrogenase 5 (11-cis/9-cis); SDR9C5; short chain dehydrogenase/reductase family 9C member 5; short chain dehydrogenase/reductase family 9C, member 5
Mus musculus (house mouse) : Rdh5 (retinol dehydrogenase 5)  MGI  AGR
Rattus norvegicus (Norway rat) : Rdh5 (retinol dehydrogenase 5)  AGR
Chinchilla lanigera (long-tailed chinchilla) : Rdh5 (retinol dehydrogenase 5)
Pan paniscus (bonobo/pygmy chimpanzee) : RDH5 (retinol dehydrogenase 5)
Canis lupus familiaris (dog) : RDH5 (retinol dehydrogenase 5)
Ictidomys tridecemlineatus (thirteen-lined ground squirrel) : Rdh5 (retinol dehydrogenase 5)
more info ...
Allele / Splice: See ClinVar data
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Human AssemblyChrPosition (strand)SourceGenome Browsers
GRCh381255,720,367 - 55,724,742 (+)NCBIGRCh38GRCh38hg38GRCh38
GRCh371256,114,151 - 56,118,526 (+)NCBIGRCh37GRCh37hg19GRCh37
Build 361254,400,488 - 54,404,756 (+)NCBINCBI36hg18NCBI36
Build 341254,400,487 - 54,404,754NCBI
Celera1255,766,620 - 55,770,996 (+)NCBI
Cytogenetic Map12q13.2NCBI
HuRef1253,152,966 - 53,157,341 (+)NCBIHuRef
CHM1_11256,080,940 - 56,085,314 (+)NCBICHM1_1
JBrowse: View Region in Genome Browser (JBrowse)

Disease Annotations
Gene-Chemical Interaction Annotations
Gene Ontology Annotations
Molecular Pathway Annotations
Phenotype Annotations
References - curated
References - uncurated
RGD Disease Portals


Comparative Map Data
Position Markers
miRNA Target Status


Nucleotide Sequences
Protein Sequences
Clinical Variants

Additional Information

External Database Links
Nomenclature History
More on RDH5
AGR Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
NCBI Genome Data Viewer

RGD Object Information
RGD ID: 1318857
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2017-11-17
Status: ACTIVE