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Literature summary for 1.1.1.300 extracted from

  • Sarkar, H.; Dubis, A.M.; Downes, S.; Moosajee, M.
    Novel heterozygous deletion in retinol dehydrogenase 12 (RDH12) causes familial autosomal dominant retinitis pigmentosa (2020), Front. Genet., 11, 335 .
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
gene RDH12, 7 coding exons, located on chromosome 14q24.1 Homo sapiens

Protein Variants

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/ Products (Substrates)

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

Organism UniProt Comment Textmining
Homo sapiens Q96NR8
-
-

Source Tissue

Source Tissue Comment Organism Textmining
eye inner segments of the photoreceptors Homo sapiens
-
photoreceptor cell inner segments Homo sapiens
-

Substrates and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
all-trans-retinal + NADPH + H+
-
Homo sapiens all-trans-retinol + NADP+
-
?

Synonyms

Synonyms Comment Organism
NADPH-dependent retinal reductase
-
Homo sapiens
RDH12
-
Homo sapiens
retinol dehydrogenase 12
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADP+
-
Homo sapiens
NADPH
-
Homo sapiens

General Information

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