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Literature summary extracted from

  • Yamamoto, H.; Simon, A.; Eriksson, U.; Harris, E.; Berson, E.L.; Dryja, T.P.
    Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus (1999), Nat. Genet., 22, 188-191.
    View publication on PubMed

Application

EC Number Application Comment Organism
1.1.1.315 medicine evaluation of patients with hereditary retinal diseases featuring subretinal spots, i.e. retinitis punctata albescens and fundus albipunctatus, and patients with typical dominant or recessive retinitis pigmentosa for mutations in RDH5. Mutations are found only in two unrelated patients, both with fundus albipunctatus. Mutations segregate with disease in the respective families. Recombinant mutant 11-cis retinol dehydrogenases have reduced activity compared with recombinant enzyme with wild-type sequence Homo sapiens

Cloned(Commentary)

EC Number Cloned (Comment) Organism
1.1.1.315 expression in Cos-1 cells Homo sapiens

Protein Variants

EC Number Protein Variants Comment Organism
1.1.1.315 G238W natural mutation identiied in patient with fundus albipunctatus, about 10% residual activity Homo sapiens
1.1.1.315 S73F natural mutation identiied in patient with fundus albipunctatus, about 20% residual activity Homo sapiens

KM Value [mM]

EC Number KM Value [mM] KM Value Maximum [mM] Substrate Comment Organism Structure
1.1.1.315 0.0067
-
11-cis-retinol-[cellular retinaldehyde binding protein] wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens

Organism

EC Number Organism UniProt Comment Textmining
1.1.1.315 Homo sapiens Q92781
-
-

Specific Activity [micromol/min/mg]

EC Number Specific Activity Minimum [µmol/min/mg] Specific Activity Maximum [µmol/min/mg] Comment Organism
1.1.1.315 8.4
-
wild-type, pH not specified in the publication, temperature not specified in the publication Homo sapiens

Substrates and Products (Substrate)

EC Number Substrates Comment Substrates Organism Products Comment (Products) Rev. Reac.
1.1.1.315 11-cis-retinal-[cellular retinaldehyde binding protein] + NADH + H+ in presence of excess NADH, wild-type catalyzes the reduction of 11-cis-retinal Homo sapiens 11-cis-retinol-[cellular retinaldehyde binding protein] + NAD+
-
r
1.1.1.315 11-cis-retinol-[cellular retinaldehyde binding protein] + NAD+
-
Homo sapiens 11-cis-retinal-[cellular retinaldehyde binding protein] + NADH + H+
-
r