RDH5

GENE INFORMATION

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Gene name

RDH5 (HGNC Symbol)

Synonyms

HSD17B9, RDH1, SDR9C5

Description

Retinol dehydrogenase 5 (11-cis/9-cis) (HGNC Symbol)

Entrez gene 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]

Chromosome

12

Cytoband

q13.2

Chromosome location (bp)

55720367 - 55724705

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000135437 (version 78.38)

Entrez gene

5959

UniProt

Q92781 (UniProt - Evidence at protein level)

neXtProt

NX_Q92781

Antibodypedia

RDH5 antibodies
 

PROTEIN VIEW

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RDH5-001
 
RDH5-002
 
RDH5-008
 
RDH5-010
 
 
 
 
 

PROTEIN INFORMATION

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Splice variant

Ensembl

UniProt

Protein class

Gene ontology

Length
(aa)

Molecular mass
(kDa)

Signal peptide
(predicted)

Transmembrane regions
(predicted)

RDH5-001 ENSP00000257895
ENST00000257895
Q92781
Show all »
Show » Show » 318 35 Yes 0
RDH5-002 ENSP00000447128
ENST00000548082
Q92781
Show all »
Show » Show » 318 35 Yes 0
RDH5-008 ENSP00000449927
ENST00000547072
F8VVC7
Show all »
Show » Show » 221 24.3 No 0
RDH5-010 ENSP00000448014
ENST00000552930
F8VUB9
Show all »
Show » Show » 55 5.8 No 0