Entrez gene ID | | 145226 |
Official gene symbol | | RDH12 |
Full name | | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
Aliases | | ,FLJ30273,LCA13,LCA3,SDR7C2, |
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] |
Location | | Chromosome: 14 Locus: 14q24.1 |
Gene position | | 68168603 - 68201168 Map Viewer |
Gene orientation | | plus |
Gene size | | 32566 bp |
Gene sequence |
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OMIM ID | | 608830 |