EC Number | Application | Comment | Organism |
---|---|---|---|
1.1.1.105 | medicine | mutations in RDH12 are associated with Leber congenital amaurosis | Homo sapiens |
EC Number | Protein Variants | Comment | Organism |
---|---|---|---|
1.1.1.105 | C201R | the loss of function mutant is associated with severe loss of retinal functionand early onset severe retinal dystrophy | Homo sapiens |
EC Number | Molecular Weight [Da] | Molecular Weight Maximum [Da] | Comment | Organism |
---|---|---|---|---|
1.1.1.105 | 35000 | - |
calculated from amino acid sequence | Homo sapiens |
EC Number | Organism | UniProt | Comment | Textmining |
---|---|---|---|---|
1.1.1.105 | Homo sapiens | Q96NR8 | - |
- |
EC Number | Source Tissue | Comment | Organism | Textmining |
---|---|---|---|---|
1.1.1.105 | brain | - |
Homo sapiens | - |
1.1.1.105 | kidney | - |
Homo sapiens | - |
1.1.1.105 | liver | - |
Homo sapiens | - |
1.1.1.105 | pancreas | - |
Homo sapiens | - |
1.1.1.105 | prostate gland | - |
Homo sapiens | - |
1.1.1.105 | retina | the highest level of RDH12 expression is in the retina where it is localised to the inner segments and cell bodies of rod and cone photoreceptors | Homo sapiens | - |
1.1.1.105 | testis | - |
Homo sapiens | - |
EC Number | Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|---|
1.1.1.105 | all-trans-retinal + NADH + H+ | - |
Homo sapiens | all-trans-retinol + NAD+ | - |
r |
EC Number | Synonyms | Comment | Organism |
---|---|---|---|
1.1.1.105 | RDH12 | - |
Homo sapiens |
1.1.1.105 | retinol dehydrogenase 12 | - |
Homo sapiens |
EC Number | Cofactor | Comment | Organism | Structure |
---|---|---|---|---|
1.1.1.105 | NADH | - |
Homo sapiens |