Defective RDH12 does not reduce atRAL to atROL and causes LCA13

Stable Identifier
Reaction [transition]
Homo sapiens
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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
15258582 Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy

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

Nat. Genet. 2004
15322982 Retinal dehydrogenase 12 (RDH12) mutations in leber congenital amaurosis

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

Am. J. Hum. Genet. 2004
Catalyst Activity

NADP-retinol dehydrogenase activity of RDH12 mutants [photoreceptor inner segment membrane]

Normal reaction
Functional status

Loss of function of RDH12 mutants [photoreceptor inner segment membrane]

Name Identifier Synonyms
Leber congenital amaurosis DOID:14791 Leber's disease, Leber's congenital amaurosis, AMAUROSIS CONGENITA OF LEBER I, Leber's disease, Leber's amaurosis (disorder)
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