Gene: RDH5 (retinol dehydrogenase 5 (11-cis/9-cis)) Homo sapiens
Symbol: RDH5
Name: retinol dehydrogenase 5 (11-cis/9-cis)
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); SDR9C5; short chain dehydrogenase/reductase family 9C, member 5
Orthologs:
Latest Assembly: Human Genome Assembly GRCh37
Position:
MapChrPositionStrandSource
Human Genome Assembly GRCh381255,720,367 - 55,724,742+NCBI
Human Alternate Assembly CHM1_11256,080,940 - 56,085,314+NCBI
Human Genome Assembly HuRef1253,152,966 - 53,157,341+NCBI
Human Genome Assembly GRCh371256,114,151 - 56,118,526+NCBI
Human Genome Assembly Build 361254,400,488 - 54,404,756+NCBI
Human Cytogenetic Map12q13-q14 NCBI
Human Genome Assembly1254,400,487 - 54,404,754 NCBI
Model

Launch Genome Browser (GBrowse) : build 36 (hg18) build 37 (hg19)


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

Genomics

Comparative Map Data
Position Markers
QTLs in Region (Human Genome Assembly GRCh37)

Sequence

Nucleotide Sequences
Protein Sequences
Promoters
Clinical Variants

Additional Information

External Database Links
Nomenclature History
 
More on RDH5
Entrez Gene
Ensembl Gene
Genome Browser: (hg18) (hg19)
HGNC Report
NCBI Map Viewer
Vista
Vista + UCSC

RGD Object Information
RGD ID: 1318857
Created: 2005-01-12
Species: Homo sapiens
Last Modified: 2014-07-23
Status: ACTIVE