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

Stable Identifier
R-HSA-2466832
Type
Reaction [transition]
Species
Homo sapiens
Compartment
cytosol, endoplasmic reticulum membrane
ReviewStatus
5/5
Locations in the PathwayBrowser
Expand all
General
SVG | 
PNG
Low
Medium
High
 | PPTX  | SBGN
Defective RDH5 does not oxidise 11cROL to 11cRAL and causes RPA
Click the image above or here to open this reaction in the Pathway Browser
The layout of this reaction may differ from that in the pathway view due to the constraints in pathway layout
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
Participants
Input
Participates
as an event of
Catalyst Activity

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

Physical Entity
RDH5 mutants [endoplasmic reticulum membrane] (Homo sapiens)
Activity
NAD-retinol dehydrogenase activity (GO:0004745)
Normal reaction
RDH5 oxidises 11cROL to 11cRAL (Homo sapiens)
Functional status

Loss of function of RDH5 mutants [endoplasmic reticulum membrane]

Normal Entity
Disease Entity
Status
Disease
Name Identifier Synonyms
fundus albipunctatus DOID:11105 Pigmentary retinal dystrophy, Pigmentary retinal dystrophy (disorder)
Authored
Jassal, B  (2012-09-12)
Reviewed
Blaner, WS  (2013-01-31)
Created
Jassal, B  (2012-09-12)
Cite Us!