RLBP1

Retinaldehyde binding protein 1, also known as RLBP1, is a human gene.cite web | title = Entrez Gene: RLBP1 retinaldehyde binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6017| accessdate = ]

PBB_Summary
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summary_text = The protein encoded by this gene is a 36-kD water-soluble protein which carries 11-cis-retinaldehyde or 11-cis-retinal as physiologic ligands. It may be a functional component of the visual cycle. Mutations of this gene have been associated with severe rod-cone dystrophy, Bothnia dystrophy (nonsyndromic autosomal recessive retinitis pigmentosa) and retinitis punctata albescens.cite web | title = Entrez Gene: RLBP1 retinaldehyde binding protein 1| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=6017| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=Sparkes RS, Heinzmann C, Goldflam S, "et al." |title=Assignment of the gene (RLBP1) for cellular retinaldehyde-binding protein (CRALBP) to human chromosome 15q26 and mouse chromosome 7. |journal=Genomics |volume=12 |issue= 1 |pages= 58–62 |year= 1992 |pmid= 1733864 |doi=
*cite journal | author=Crabb JW, Goldflam S, Harris SE, Saari JC |title=Cloning of the cDNAs encoding the cellular retinaldehyde-binding protein from bovine and human retina and comparison of the protein structures. |journal=J. Biol. Chem. |volume=263 |issue= 35 |pages= 18688–92 |year= 1989 |pmid= 3198595 |doi=
*cite journal | author=Intres R, Goldflam S, Cook JR, Crabb JW |title=Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. |journal=J. Biol. Chem. |volume=269 |issue= 41 |pages= 25411–8 |year= 1994 |pmid= 7929238 |doi=
*cite journal | author=Dunn KC, Aotaki-Keen AE, Putkey FR, Hjelmeland LM |title=ARPE-19, a human retinal pigment epithelial cell line with differentiated properties. |journal=Exp. Eye Res. |volume=62 |issue= 2 |pages= 155–69 |year= 1996 |pmid= 8698076 |doi= 10.1006/exer.1996.0020
*cite journal | author=Bonaldo MF, Lennon G, Soares MB |title=Normalization and subtraction: two approaches to facilitate gene discovery. |journal=Genome Res. |volume=6 |issue= 9 |pages= 791–806 |year= 1997 |pmid= 8889548 |doi=
*cite journal | author=Sarthy V |title=Cellular retinaldehyde-binding protein localization in cornea. |journal=Exp. Eye Res. |volume=63 |issue= 6 |pages= 759–62 |year= 1997 |pmid= 9068383 |doi= 10.1006/exer.1996.0170
*cite journal | author=Maw MA, Kennedy B, Knight A, "et al." |title=Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. |journal=Nat. Genet. |volume=17 |issue= 2 |pages= 198–200 |year= 1997 |pmid= 9326942 |doi= 10.1038/ng1097-198
*cite journal | author=Crabb JW, Carlson A, Chen Y, "et al." |title=Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. |journal=Protein Sci. |volume=7 |issue= 3 |pages= 746–57 |year= 1998 |pmid= 9541407 |doi=
*cite journal | author=Burstedt MS, Sandgren O, Holmgren G, Forsman-Semb K |title=Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. |journal=Invest. Ophthalmol. Vis. Sci. |volume=40 |issue= 5 |pages= 995–1000 |year= 1999 |pmid= 10102298 |doi=
*cite journal | author=Morimura H, Berson EL, Dryja TP |title=Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. |journal=Invest. Ophthalmol. Vis. Sci. |volume=40 |issue= 5 |pages= 1000–4 |year= 1999 |pmid= 10102299 |doi=
*cite journal | author=Thumann G, Kociok N, Bartz-Schmidt KU, "et al." |title=Detection of mRNA for proteins involved in retinol metabolism in iris pigment epithelium. |journal=Graefes Arch. Clin. Exp. Ophthalmol. |volume=237 |issue= 12 |pages= 1046–51 |year= 2000 |pmid= 10654176 |doi=
*cite journal | author=Burstedt MS, Forsman-Semb K, Golovleva I, "et al." |title=Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. |journal=Arch. Ophthalmol. |volume=119 |issue= 2 |pages= 260–7 |year= 2001 |pmid= 11176989 |doi=
*cite journal | author=Harrington JJ, Sherf B, Rundlett S, "et al." |title=Creation of genome-wide protein expression libraries using random activation of gene expression. |journal=Nat. Biotechnol. |volume=19 |issue= 5 |pages= 440–5 |year= 2001 |pmid= 11329013 |doi= 10.1038/88107
*cite journal | author=Katsanis N, Shroyer NF, Lewis RA, "et al." |title=Fundus albipunctatus and retinitis punctata albescens in a pedigree with an R150Q mutation in RLBP1. |journal=Clin. Genet. |volume=59 |issue= 6 |pages= 424–9 |year= 2001 |pmid= 11453974 |doi=
*cite journal | author=Eichers ER, Green JS, Stockton DW, "et al." |title=Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. |journal=Am. J. Hum. Genet. |volume=70 |issue= 4 |pages= 955–64 |year= 2002 |pmid= 11868161 |doi=
*cite journal | author=Strausberg RL, Feingold EA, Grouse LH, "et al." |title=Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=99 |issue= 26 |pages= 16899–903 |year= 2003 |pmid= 12477932 |doi= 10.1073/pnas.242603899
*cite journal | author=Golovleva I, Bhattacharya S, Wu Z, "et al." |title=Disease-causing mutations in the cellular retinaldehyde binding protein tighten and abolish ligand interactions. |journal=J. Biol. Chem. |volume=278 |issue= 14 |pages= 12397–402 |year= 2003 |pmid= 12536144 |doi= 10.1074/jbc.M207300200
*cite journal | author=Wu Z, Yang Y, Shaw N, "et al." |title=Mapping the ligand binding pocket in the cellular retinaldehyde binding protein. |journal=J. Biol. Chem. |volume=278 |issue= 14 |pages= 12390–6 |year= 2003 |pmid= 12536149 |doi= 10.1074/jbc.M212775200
*cite journal | author=Fishman GA, Roberts MF, Derlacki DJ, "et al." |title=Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. |journal=Arch. Ophthalmol. |volume=122 |issue= 1 |pages= 70–5 |year= 2004 |pmid= 14718298 |doi= 10.1001/archopht.122.1.70
*cite journal | author=Nawrot M, West K, Huang J, "et al." |title=Cellular retinaldehyde-binding protein interacts with ERM-binding phosphoprotein 50 in retinal pigment epithelium. |journal=Invest. Ophthalmol. Vis. Sci. |volume=45 |issue= 2 |pages= 393–401 |year= 2004 |pmid= 14744877 |doi=

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