| Gene Symbol |
RDH12
|
| Entrez Gene |
145226
|
| Alt Symbol |
LCA13, LCA3, RP53, SDR7C2
|
| Species |
Human
|
| Gene Type |
protein-coding
|
| Description |
retinol dehydrogenase 12 (all-trans/9-cis/11-cis)
|
| Other Description |
all-trans and 9-cis retinol dehydrogenase|retinol dehydrogenase 12|retinol dehydrogenase 12, all-trans and 9-cis|short chain dehydrogenase/reductase family 7C member 2|short chain dehydrogenase/reductase family 7C, member 2
|
| Swissprots |
B2RDA2 Q8TAW6 Q96NR8
|
| Accessions |
EAW80951 Q96NR8 AK054835 BAB70811 AK315462 BAG37849 BC025724 AAH25724 DQ067457 DQ067458 HQ448700 ADQ33178 NM_152443 NP_689656
|
| Function |
Exhibits an oxidoreductive catalytic activity towards retinoids. Most efficient as an NADPH-dependent retinal reductase. Displays high activity toward 9-cis and all-trans-retinol. Also involved in the metabolism of short-chain aldehydes. No steroid dehydrogenase activity detected. Might be the key enzyme in the formation of 11-cis-retinal from 11-cis-retinol during regeneration of the cone visual pigments. {ECO:0000269|PubMed:12226107}.
|
| Tissue Specificity |
Widely expressed, mostly in eye, kidney, brain, skeletal muscle and stomach.
|
| Top Pathways |
Retinol metabolism
|