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Literature summary for 1.1.1.105 extracted from

  • Moradi, P.; Mackay, D.; Hunt, D.; Moore, A.
    Focus on molecules: Retinol dehydrogenase 12 (RDH12) (2008), Exp. Eye Res., 87, 160-161.
    View publication on PubMed

Application

Application Comment Organism
medicine mutations in RDH12 are associated with Leber congenital amaurosis Homo sapiens

Protein Variants

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 [Da] Molecular Weight Maximum [Da] Comment Organism
35000
-
calculated from amino acid sequence Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens Q96NR8
-
-

Source Tissue

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 and Products (Substrate)

Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
all-trans-retinal + NADH + H+
-
Homo sapiens all-trans-retinol + NAD+
-
r

Synonyms

Synonyms Comment Organism
RDH12
-
Homo sapiens
retinol dehydrogenase 12
-
Homo sapiens

Cofactor

Cofactor Comment Organism Structure
NADH
-
Homo sapiens