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RDH12

Official Full Name
retinol dehydrogenase 12
Organism
Homo sapiens
GeneID
145226
Background
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 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Synonyms
RP53; LCA13; SDR7C2;

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