Cloned (Comment) | Organism |
---|---|
gene RDH12, 7 coding exons, located on chromosome 14q24.1 | Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E260R | naturally occuring mutation, a single base pair deletion resulting in a frameshift and premature termination, mutants display a milder late onset (average age of diagnosis is 28.5 years) retinitis pigmentosa (RP) phenotype, with intraretinal bone spicule pigmentation and attenuation of retinal arterioles, phenotypes, overview | Homo sapiens |
F254Lfs*24 | naturally occuring mutation c.759del, the mutation results in a frameshift and premature termination identified in two unrelated individuals with familial autosomal dominant retinitis pigmentosa (RP), phenotypes, overview | Homo sapiens |
Natural Substrates | Organism | Comment (Nat. Sub.) | Natural Products | Comment (Nat. Pro.) | Rev. | Reac. |
---|---|---|---|---|---|---|
all-trans-retinal + NADPH + H+ | Homo sapiens | - |
all-trans-retinol + NADP+ | - |
? |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | Q96NR8 | - |
- |
Source Tissue | Comment | Organism | Textmining |
---|---|---|---|
eye | inner segments of the photoreceptors | Homo sapiens | - |
photoreceptor cell | inner segments | Homo sapiens | - |
Substrates | Comment Substrates | Organism | Products | Comment (Products) | Rev. | Reac. |
---|---|---|---|---|---|---|
all-trans-retinal + NADPH + H+ | - |
Homo sapiens | all-trans-retinol + NADP+ | - |
? |
Synonyms | Comment | Organism |
---|---|---|
NADPH-dependent retinal reductase | - |
Homo sapiens |
RDH12 | - |
Homo sapiens |
retinol dehydrogenase 12 | - |
Homo sapiens |
Cofactor | Comment | Organism | Structure |
---|---|---|---|
NADP+ | - |
Homo sapiens | |
NADPH | - |
Homo sapiens |
General Information | Comment | Organism |
---|---|---|
malfunction | mutations in the retinol dehydrogenase 12 (RDH12) gene are primarily associated with Leber congenital amaurosis (LCA) type 13, a severe early onset autosomal recessive retinal dystrophy. This is a progressive disorder with significant decline from 10 years of age, which leads to complete blindness in adulthood. RDH12-LCA is characterized by macular atrophy, which extends peripherally in a variegated pattern corresponding to the retinal vasculature, and midperipheral pigmentary retinopathy. A heterozygous deletion (F254Lfs*24 ) in retinol dehydrogenase 12 (RDH12) causes familial autosomal dominant retinitis pigmentosa. Mutation E260R, a single base pair deletion resulting in a frameshift and premature termination, causes a milder late onset (average age of diagnosis is 28.5 years) retinitis pigmentosa (RP) phenotype, with intraretinal bone spicule pigmentation and attenuation of retinal arterioles. Phenotypes, overview | Homo sapiens |