RDH12

GENE INFORMATION

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Gene name

RDH12 (HGNC Symbol)

Synonyms

FLJ30273, LCA13, RP53, SDR7C2

Description

Retinol dehydrogenase 12 (all-trans/9-cis/11-cis) (HGNC Symbol)

Entrez gene summary

The protein encoded by this gene is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. The encoded enzyme also plays a role in the metabolism of short-chain aldehydes but does not exhibit steroid dehydrogenase activity. Defects in this gene are a cause of Leber congenital amaurosis type 3 (LCA3). [provided by RefSeq, Jul 2008]

Chromosome

14

Cytoband

q24.1

Chromosome location (bp)

67701886 - 67734452

Protein evidence

Evidence at protein level (all genes)

Ensembl

ENSG00000139988 (version 78.38)

Entrez gene

145226

UniProt

Q96NR8 (UniProt - Evidence at protein level)

neXtProt

NX_Q96NR8

Antibodypedia

RDH12 antibodies
 

PROTEIN VIEW

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RDH12-001
 
RDH12-201
 
 
 
 
 

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)

RDH12-001 ENSP00000449079
ENST00000551171
Q96NR8
Show all »
Show » Show » 316 35.1 Yes 0
RDH12-201 ENSP00000267502
ENST00000267502
Q96NR8
Show all »
Show » Show » 316 35.1 Yes 0