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Immunogen sequence: MLVTLGLLT SFFSFLYMVA PSIRKFFAGG VCRTNVQLPG KVVVITGANT GIGKETAREL ASRGARVYIA CRDVLKGESA ASEIRVDTKN SQVLVRKLDL SDTKSIRAFA EGFLAEEKQL HILINNAGVM MCPYSKTADG FETHLGVNHL GHFLLTYLLL EQLKVSAPAR VVNVSSVAHH IGKIPFHDLQ SEKRYSRGFA YCHSKLANVL FTRELAKRLQ GTGVTTYAVH PGVVRSELVR HSSLLCLLWR LFSPFVKTAR EGAQTSLHCA LAEGLEPLSG KYFSDCKRTW VSPRARNNKT AERLWNVSCE LLGIRWE (1-316 aa encoded by BC025724)
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).
For Research Use Only. Not for use in diagnostic procedures. Not for resale without express authorization.
Protein Aliases: All-trans and 9-cis retinol dehydrogenase; LCA3; Retinol dehydrogenase 12; retinol dehydrogenase 12, all-trans and 9-cis; Short chain dehydrogenase/reductase family 7C member 2; short chain dehydrogenase/reductase family 7C, member 2
Gene Aliases: A930033N07Rik; LCA13; RDH12; RP53; SDR7C2
UniProt ID: (Human) Q96NR8, (Mouse) Q8BYK4
Entrez Gene ID: (Human) 145226, (Rat) 314264, (Mouse) 77974
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