| Protein Name | retinol dehydrogenase 12 |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 145226 |
| Gene Symbol | RDH12 |
| UniProt | Q96NR8 (RDH12_HUMAN), A0A0S2Z613 (A0A0S2Z613_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
22
Total Number of Articles : 18 |
Description |
retinol dehydrogenase 12 |
| 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 13 and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015] |
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| Properties | |