Reaction: Defective RDH12 does not reduce atRAL to atROL
- 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 retinitis pigmentosa type 53 (RP53; MIM:612712), an autosomal recessive retinal dystrophy characterised by retinal pigment deposits and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptor cells. The A126V mutant causes RP53 (Benayoun et al. 2009).
Defects in RDH12 cause retinitis pigmentosa type 53 (RP53; MIM:612712), an autosomal recessive retinal dystrophy characterised by retinal pigment deposits and primary loss of rod photoreceptor cells followed by secondary loss of cone photoreceptor cells. The A126V mutant causes RP53 (Benayoun et al. 2009).
Reaction - small molecule participants:
H+ [cytosol]
atRAL [cytosol]
NADPH [cytosol]
Reactome.org reaction link: R-HSA-2471670
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Reaction input - small molecules:
hydron
all-trans-retinal
NADPH(4-)
Reaction output - small molecules:
Reactome.org link: R-HSA-2471670