Defective RDH12 does not reduce atRAL to atROL and causes LCA13

Stable Identifier
R-HSA-2466861
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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Retinol dehydrogenase RDH12 mediates the reversible, NADP(H)-dependent reduction of all-trans-retinal (atRAL) or 11-cis-retinal (11cRAL) to all-trans-retinol (atROL) or 11-cis-retinol (11cROL) respectively in photoreceptor cells.

Defects in RDH12 cause Leber congenital amaurosis type 13 (LCA13; MIM:612712). LCA defects are early-onset and severe retinal degenerations that are responsible for the most common cause of congenital blindness in infants and children. Mutants that abolish RDH12 activity to result in LCA13 are Y226C, Q189X (Janecke et al, 2004), p.Ala269fxX270 (Perault et al. 2004, Janecke et al, 2004) and H151N (Perault et al. 2004).

Literature References
PubMed ID Title Journal Year
15322982 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

Perrault, I, Hanein, S, Gerber, S, Barbet, F, Ducroq, D, Dollfus, H, Hamel, C, Dufier, JL, Munnich, A, Kaplan, J, Rozet, JM

Am. J. Hum. Genet. 2004
15258582 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

Janecke, AR, Thompson, DA, Utermann, G, Becker, C, Hübner, CA, Schmid, E, McHenry, CL, Nair, AR, Rüschendorf, F, Heckenlively, J, Wissinger, B, Nürnberg, P, Gal, A

Nat. Genet. 2004
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
NADP-retinol dehydrogenase activity of RDH12 mutants [photoreceptor inner segment membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
Leber congenital amaurosis 14791 Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
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