RDH12 Back

retinol dehydrogenase 12 (all-trans/9-cis/11-cis)

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NCBI Description of RDH12
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).

Community Annotation of RDH12 Add / Edit RDH12: Annotations

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Figure notes


• "Mouse over" a mutation to see details.
• Missense green saturation indicates evolutionary conservation of the mutated positions.
• Red hashes in protein strip are splice sites.
• Blue-white-red bars are log2 copy ratio distributions (–1 to +1) from Zack et al. (2013).


Legend

RDH12 is highly significantly mutated in
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RDH12 is significantly mutated in
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RDH12 is near significance in
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Click on a tumor type to see its full list of significant genes.

Data details


• Mutation list for RDH12