Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA

Stable Identifier
R-HSA-2466832
Type
Reaction [transition]
Species
Homo sapiens
Compartment
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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. Mutations causing RPA include G238W (Gonzalez-Fernandez et al. 1999, Yamamoto et al. 1999), R280H (Gonzalez-Fernandez et al. 1999, Kuroiwa et al. 2000, Nakamura et al. 2000), A294P (Gonzalez-Fernandez et al. 1999), V177G (Gonzalez-Fernandez et al. 1999, Kuroiwa et al. 2000) and R157W (Cideciyan et al. 2000).

Literature References
PubMed ID Title Journal Year
11078852 A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus

Kuroiwa, S, Kikuchi, T, Yoshimura, N

Am. J. Ophthalmol. 2000
10369264 Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

Yamamoto, H, Simon, A, Eriksson, U, Harris, E, Berson, EL, Dryja, TP

Nat. Genet. 1999
11153648 Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man

Cideciyan, AV, Haeseleer, F, Fariss, RN, Aleman, TS, Jang, GF, Verlinde, CL, Marmor, MF, Jacobson, SG, Palczewski, K

Vis. Neurosci. 2000
11053295 A high association with cone dystrophy in Fundus albipunctatus caused by mutations of the RDH5 gene

Nakamura, M, Hotta, Y, Tanikawa, A, Terasaki, H, Miyake, Y

Invest. Ophthalmol. Vis. Sci. 2000
10617778 11-cis retinol dehydrogenase mutations as a major cause of the congenital night-blindness disorder known as fundus albipunctatus

Gonzalez-Fernandez, F, Kurz, D, Bao, Y, Newman, S, Conway, BP, Young, JE, Han, DP, Khani, SC

Mol. Vis. 1999
Participants
Participant Of
Catalyst Activity
Catalyst Activity
Title
retinol dehydrogenase activity of RDH5 mutants [endoplasmic reticulum membrane]
Physical Entity
Activity
Normal reaction
Disease
Name Identifier Synonyms
fundus albipunctatus 11105 Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
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