Pathway
Defective visual phototransduction due to RDH5 loss of function
11-cis-retinol dehydrogenase (RDH5) can reversibly catalyse the oxidation of all-trans-retinol (atROL, bound to RLBP1) to all-trans-retinal (atRAL) in retinal pigment epithelium (RPE) cells using NAD+ as cofactor. Defective RDH5 causes retinitis punctata albescens (RPA, also called fundus albipunctatus, FA; MIM:136880). RPA (an autosomal recessive disorder) is a form of stationary congenital night blindness characterised by a reduced regeneration rate of rod and cone photoreceptors and yellow-white lesions within the retina or the RPE. For review, please refer to Zeitz et al. 2015.
REACT:R-HSA-9918438Reactome
What the reference databases state
Statements
2 statements
2 statements · 1 reference database · Subject: Defective visual phototransduction due to RDH5 loss of function · Sources: Reactome
- RDH5 participates in Defective visual phototransduction due to RDH5 loss of functionProteinReactome R-HSA-9918438Inferred only
- RLBP1 participates in Defective visual phototransduction due to RDH5 loss of functionProteinReactome R-HSA-9918438Inferred only