Pathway

Defective visual phototransduction due to RDH12 loss of function

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.

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.

Summary from Reactome (R-HSA-9918440), read 2026-09-23.

REACT:R-HSA-9918440Reactome

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What the reference databases state

Statements

1 statement

1 statement · 1 reference database · Subject: Defective visual phototransduction due to RDH12 loss of function · Sources: Reactome

Order

RDH12 participates in Defective visual phototransduction due to RDH12 loss of functionProteinReactome R-HSA-9918440Inferred only