Presku: | AAP52973 |
Size: | 100 ug |
Weight: | 35kDa |
Gene: | 145226 |
Format: | Lyophilized powder |
Target: | RDH12 is an NADPH-dependent retinal reductase whose highest activity is toward 9-cis and all-trans-retinol. RDH12 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). 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). |
Alternative names: | FLJ30273; LCA3 |