Gene Symbol: Rlbp1
Description: retinaldehyde binding protein 1
Alias: retinaldehyde-binding protein 1
Burstedt M, Forsman Semb K, Golovleva I, Janunger T, Wachtmeister L, Sandgren O. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Arch Ophthalmol. 2001;119:260-7 pubmed
..the phenotype of Bothnia dystrophy, an autosomal recessive retinal dystrophy with an R234W mutation in the RLBP1 gene encoding cellular retinaldehyde-binding protein. Medical records were reviewed retrospectively...
Maw M, Kennedy B, Knight A, Bridges R, Roth K, Mani E, et al
. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Nat Genet. 1997;17:198-200 pubmed
..arRP) indicated that the affected siblings were homozygous by descent for a G4763A nucleotide substitution in RLBP1, the gene encoding cellular retinaldehyde-binding protein (CRALBP)...
Huang J, Possin D, Saari J. Localizations of visual cycle components in retinal pigment epithelium. Mol Vis. 2009;15:223-34 pubmed
..CRALBP and CRBP1 were distributed throughout the RPE cell, where they could mediate diffusion of retinoids between apical processes and somata. ..
von Lintig J, Kiser P, Golczak M, Palczewski K. The biochemical and structural basis for trans-to-cis isomerization of retinoids in the chemistry of vision. Trends Biochem Sci. 2010;35:400-10 pubmed publisher
..These 'ancestral footprints' in animal genomes bear witness to the common origin of the chemistry of vision, and will further stimulate research across evolutionary boundaries. ..
Daiger S, Sullivan L, Bowne S. Genes and mutations causing retinitis pigmentosa. Clin Genet. 2013;84:132-41 pubmed publisher
..In this review, we summarize the current approaches to gene discovery and mutation detection for RP, and indicate pitfalls and unsolved problems. Similar considerations apply to other forms of inherited retinal disease. ..
Katsanis N, Shroyer N, Lewis R, Cavender J, Al Rajhi A, Jabak M, et al
. Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. Clin Genet. 2001;59:424-9 pubmed
..In one kindred, KKESH-099, we identified a homozygous R150Q alteration in RLBP1, the gene encoding the cellular retinaldehyde binding protein, associated previously with both recessive retinitis ..
Wright A, Chakarova C, Abd El Aziz M, Bhattacharya S. Photoreceptor degeneration: genetic and mechanistic dissection of a complex trait. Nat Rev Genet. 2010;11:273-84 pubmed publisher
..Although genetic and mechanistic diversity creates challenges for therapy, some approaches--particularly gene-replacement therapy--are showing considerable promise. ..