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
Orthologs:
Latest Assembly: GRCh38 - Human Genome Assembly GRCh38
Position:
Human AssemblyChrPosition (strand)SourceGenome Browsers
JBrowseNCBIUCSCEnsembl
GRCh381255,720,367 - 55,724,742 (+)NCBIGRCh38hg38GRCh38
GRCh371256,114,151 - 56,118,526 (+)NCBIGRCh37hg19GRCh37
Build 361254,400,488 - 54,404,756 (+)NCBINCBI36hg18NCBI36
Build 341254,400,487 - 54,404,754NCBI
Celera1255,766,620 - 55,770,996 (+)NCBI
Cytogenetic Map12q13.2NCBImapview
HuRef1253,152,966 - 53,157,341 (+)NCBI
CHM1_11256,080,940 - 56,085,314 (+)NCBI
Model


Disease Annotations
Gene-Chemical Interaction Annotations
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References - curated
References - uncurated
RGD Disease Portals

Genomics

Comparative Map Data
Position Markers
miRNA Target Status

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RDH5
Entrez Gene
Ensembl Gene
JBrowse: hg19 hg38
HGNC Report
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Vista
Vista + UCSC

RGD Object Information
RGD ID: 1318857
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2016-04-19
Status: ACTIVE