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Literature summary 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

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

Protein Variants

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

Molecular Weight [Da]

EC Number Molecular Weight [Da] Molecular Weight Maximum [Da] Comment Organism
1.1.1.105 35000
-
calculated from amino acid sequence Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.105 Homo sapiens Q96NR8
-
-

Source Tissue

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
-

Substrates and Products (Substrate)

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

Synonyms

EC Number Synonyms Comment Organism
1.1.1.105 RDH12
-
Homo sapiens
1.1.1.105 retinol dehydrogenase 12
-
Homo sapiens

Cofactor

EC Number Cofactor Comment Organism Structure
1.1.1.105 NADH
-
Homo sapiens