LMPD Database

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LMP000521

Record overview

LMPD IDLMP000521
Gene ID145226
SpeciesHomo sapiens (Human)
Gene Nameretinol dehydrogenase 12 (all-trans/9-cis/11-cis)
Gene SymbolRDH12
SynonymsLCA13; LCA3; RP53; SDR7C2
Alternate namesretinol dehydrogenase 12; all-trans and 9-cis retinol dehydrogenase; retinol dehydrogenase 12, all-trans and 9-cis; short chain dehydrogenase/reductase family 7C, member 2
Chromosome14
Map Location14q24.1
EC Number1.1.1.-
SummaryThe 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]
OrthologsView orthologs and multiple alignments for RDH12

Proteins

retinol dehydrogenase 12 precursor
Refseq ID:NP_689656
Protein GI:186928839
UniProt ID:Q96NR8
mRNA ID:NM_152443
Length:316
RefSeq Status:REVIEWED
MLVTLGLLTSFFSFLYMVAPSIRKFFAGGVCRTNVQLPGKVVVITGANTGIGKETARELASRGARVYIACRDVLKGESAASEIRVDTKNSQVLVRKLDLS
DTKSIRAFAEGFLAEEKQLHILINNAGVMMCPYSKTADGFETHLGVNHLGHFLLTYLLLERLKVSAPARVVNVSSVAHHIGKIPFHDLQSEKRYSRGFAY
CHSKLANVLFTRELAKRLQGTGVTTYAVHPGVVRSELVRHSSLLCLLWRLFSPFVKTAREGAQTSLHCALAEGLEPLSGKYFSDCKRTWVSPRARNNKTA
ERLWNVSCELLGIRWE
 
sig_peptide: 1..20
inference: COORDINATES: ab initio prediction:SignalP:4.0
calculated_mol_wt: 2251
peptide sequence: 
MLVTLGLLTSFFSFLYMVAP