Rdh12 - retinol dehydrogenase 12 Gene
Species: Mus musculus
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 the human gene are associated with Leber congenital amaurosis type 13, and Retinitis Pigmentosa 53. [provided by RefSeq, Sep 2015]
Rdh12 Products (2)
| mRNA | Protein | Name |
|---|---|---|
| NM_001313971.1 | NP_001300900.1 | retinol dehydrogenase 12 isoform 2 precursor |
| NM_030017.4 | NP_084293.1 | retinol dehydrogenase 12 isoform 1 precursor |
| Molecular Function GO Annotation | Evidence | References | Source |
|---|---|---|---|
| enables all-trans-retinol dehydrogenase (NAD+) activity |
IDA
IDA: Inferred from direct assay
|
22621924 | MGI |
| Biological Process GO Annotation | Evidence | References | Source |
|---|---|---|---|
| involved in cellular detoxification of aldehyde |
IDA
IDA: Inferred from direct assay
|
22621924 | MGI |
| involved in retinol metabolic process |
IDA
IDA: Inferred from direct assay
|
22621924 | MGI |
| involved in visual perception |
IMP
IMP: Inferred from mutant phenotype
|
17032653 | MGI |
| Cellular Component GO Annotation | Evidence | References | Source |
|---|---|---|---|
| located in photoreceptor inner segment |
IDA
IDA: Inferred from direct assay
|
12226107 | MGI |
| Protein Preferred Names | Protein Names | |
|---|---|---|
|
retinol dehydrogenase 12 |
|