Reaction: Defective RDH12 does not reduce atRAL to atROL and causes LCA13
- in pathway: Retinoid cycle disease events
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).
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).
Reaction - small molecule participants:
H+ [cytosol]
atRAL [cytosol]
NADPH [cytosol]
Reactome.org reaction link: R-HSA-2466861
======
Reaction input - small molecules:
hydron
all-trans-retinal
NADPH(4-)
Reaction output - small molecules:
Reactome.org link: R-HSA-2466861