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