| URN | urn:agi-llid:3789 |
|---|---|
| Total Entities | 0 |
| Connectivity | 37 |
| Name | Rdh12 |
| Description | retinol dehydrogenase 12 (all-trans/9-cis/11-cis) |
| Notes | 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] |
| Ariadne Ontology | Glucose metabolism |
|---|---|
| Ser-Gly metabolism |
| GO Molecular Function | nucleotide binding |
|---|---|
| oxidoreductase activity | |
| retinol dehydrogenase activity |
| GO Cellular Component | intracellular |
|---|
| GO Biological Process | response to stimulus |
|---|---|
| metabolic process | |
| retinol metabolic process | |
| visual perception | |
| oxidation-reduction process | |
| photoreceptor cell maintenance |
| Pathway | Vitamin A (retinol) metabolism and visual cycle |
|---|---|
| retinoid cycle metabolic pathway | |
| retinitis pigmentosa pathway | |
| altered retinoid cycle metabolic pathway |
| Group | Glucose metabolism |
|---|---|
| Ser-Gly metabolism | |
| response to stimulus | |
| metabolic process | |
| retinol metabolic process | |
| visual perception | |
| oxidation-reduction process | |
| photoreceptor cell maintenance | |
| nucleotide binding | |
| oxidoreductase activity | |
| retinol dehydrogenase activity | |
| intracellular |
| MedScan ID | 3789 |
|---|
| Hugo ID | 19977 |
|---|
| Human chromosome position | 14q24.1 |
|---|
| LocusLink ID | 3789 |
|---|---|
| 145226 | |
| 77974 | |
| 314264 |
| Alias | LCA3 |
|---|---|
| LCA13 | |
| SDR7C2 | |
| retinol dehydrogenase 12 | |
| all-trans and 9-cis retinol dehydrogenase | |
| retinol dehydrogenase 12, all-trans and 9-cis | |
| short chain dehydrogenase/reductase family 7C, member 2 | |
| A930033N07Rik | |
| OTTMUSP00000034597 | |
| retinol dehydrogenase 12 (all-trans/9-cis/11-cis) | |
| retinol dehydrogenase 12 (all-trans and 9-cis) | |
| RDH12 | |
| Leber congenital amaurosis 3 | |
| FLJ30273 | |
| A930033N07 | |
| Leber congenital amaurosis III |
| Organism | Homo sapiens |
|---|---|
| Mus musculus | |
| Rattus norvegicus |
| OMIM ID | 608830 |
|---|---|
| 612712 | |
| 604232 |
| Unigene ID | Hs.415322 |
|---|---|
| Mm.274373 | |
| Rn.148972 |
| KEGG ID | hsa:145226 |
|---|---|
| mmu:77974 | |
| rno:314264 |
| Swiss-Prot Accession | Q96NR8 |
|---|---|
| Q8BYK4 | |
| D3ZEP9 | |
| B2RDA2 | |
| Q8TAW6 | |
| Q91WA5 | |
| Q9D1Y4 |
| EC Number | 1.1.1.- |
|---|
| GO ID | 0000166 |
|---|---|
| 0004745 | |
| 0045494 | |
| 0050896 | |
| 0042572 | |
| 0007601 | |
| 0005622 | |
| 0016491 | |
| 0008152 | |
| 0055114 | |
| 0003824 |
| Swiss-Prot ID | RDH12_HUMAN |
|---|---|
| RDH12_MOUSE | |
| B2RDA2_HUMAN |
| Cell Localization | Cytoplasm |
|---|
| IPI ID | IPI00163384 |
|---|---|
| IPI00227144 | |
| IPI00882254 | |
| IPI00882180 | |
| IPI00767597 |
| Mouse chromosome position | 12 |
|---|
| Rat chromosome position | 6q24 |
|---|
| Homologene ID | 110830 |
|---|
| MGI ID | 1925224 |
|---|
| RGD ID | 1310462 |
|---|
| Primary Cell Localization | Cytoplasm |
|---|