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

Stable Identifier
Reaction [transition]
Homo sapiens
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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
10369264 Mutations in the gene encoding 11-cis retinol dehydrogenase cause delayed dark adaptation and fundus albipunctatus

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

Nat. Genet. 1999
11078852 A novel compound heterozygous mutation in the RDH5 gene in a patient with fundus albipunctatus

Kikuchi, T, Kuroiwa, S, Yoshimura, N

Am. J. Ophthalmol. 2000
11153648 Rod and cone visual cycle consequences of a null mutation in the 11-cis-retinol dehydrogenase gene in man

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

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

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

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

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

Mol. Vis. 1999
Catalyst Activity

NAD-retinol dehydrogenase activity of RDH5 mutants [endoplasmic reticulum membrane]

Normal reaction
Functional status

Loss of function of RDH5 mutants [endoplasmic reticulum membrane]

Name Identifier Synonyms
fundus albipunctatus DOID:11105 Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
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