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Gene Review

RLBP1  -  retinaldehyde binding protein 1

Homo sapiens

Synonyms: CRALBP, Cellular retinaldehyde-binding protein, Retinaldehyde-binding protein 1
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Disease relevance of RLBP1


High impact information on RLBP1

  • In the current study, molecular genetic analysis of a consanguineous pedigree segregating for non-syndromic autosomal recessive retinitis pigmentosa (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) [5].
  • CRALBP is not expressed in photoreceptors but is abundant in the retinal pigment epithelium (RPE) and Müller cells of the neuroretina, where it carries 11-cis-retinol and 11-cis-retinaldehyde [5].
  • These findings suggest that arRP in the current pedigree results from a lack of functional CRALBP, presumably leading to disruption of retinal vitamin-A metabolism [5].
  • To test this hypothesis, we sequenced all coding exons and splice junctions of RLBP1 [1].
  • We detected significant linkage to markers on the long arm of chromosome 15, in a region encompassing RLBP1, the gene encoding the cellular retinaldehyde-binding protein [1].

Biological context of RLBP1


Anatomical context of RLBP1


Associations of RLBP1 with chemical compounds


Physical interactions of RLBP1


Other interactions of RLBP1


Analytical, diagnostic and therapeutic context of RLBP1


  1. Newfoundland rod-cone dystrophy, an early-onset retinal dystrophy, is caused by splice-junction mutations in RLBP1. Eichers, E.R., Green, J.S., Stockton, D.W., Jackman, C.S., Whelan, J., McNamara, J.A., Johnson, G.J., Lupski, J.R., Katsanis, N. Am. J. Hum. Genet. (2002) [Pubmed]
  2. Recessive mutations in the RLBP1 gene encoding cellular retinaldehyde-binding protein in a form of retinitis punctata albescens. Morimura, H., Berson, E.L., Dryja, T.P. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  3. Retina-specific nuclear receptor: A potential regulator of cellular retinaldehyde-binding protein expressed in retinal pigment epithelium and Müller glial cells. Chen, F., Figueroa, D.J., Marmorstein, A.D., Zhang, Q., Petrukhin, K., Caskey, C.T., Austin, C.P. Proc. Natl. Acad. Sci. U.S.A. (1999) [Pubmed]
  4. Differential expression of retinal proteins in a pineal parenchymal tumor. Lopes, M.B., Gonzalez-Fernandez, F., Scheithauer, B.W., VandenBerg, S.R. J. Neuropathol. Exp. Neurol. (1993) [Pubmed]
  5. Mutation of the gene encoding cellular retinaldehyde-binding protein in autosomal recessive retinitis pigmentosa. Maw, M.A., Kennedy, B., Knight, A., Bridges, R., Roth, K.E., Mani, E.J., Mukkadan, J.K., Nancarrow, D., Crabb, J.W., Denton, M.J. Nat. Genet. (1997) [Pubmed]
  6. Bothnia dystrophy caused by mutations in the cellular retinaldehyde-binding protein gene (RLBP1) on chromosome 15q26. Burstedt, M.S., Sandgren, O., Holmgren, G., Forsman-Semb, K. Invest. Ophthalmol. Vis. Sci. (1999) [Pubmed]
  7. 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. Fishman, G.A., Roberts, M.F., Derlacki, D.J., Grimsby, J.L., Yamamoto, H., Sharon, D., Nishiguchi, K.M., Dryja, T.P. Arch. Ophthalmol. (2004) [Pubmed]
  8. Retinoid processing proteins in the ocular ciliary epithelium. Salvador-Silva, M., Ghosh, S., Bertazolli-Filho, R., Boatright, J.H., Nickerson, J.M., Garwin, G.G., Saari, J.C., Coca-Prados, M. Mol. Vis. (2005) [Pubmed]
  9. Molecular cloning and structural analysis of the human gene encoding cellular retinaldehyde-binding protein. Intres, R., Goldflam, S., Cook, J.R., Crabb, J.W. J. Biol. Chem. (1994) [Pubmed]
  10. The intracellular vitamin A-binding proteins: an overview of their functions. Wolf, G. Nutr. Rev. (1991) [Pubmed]
  11. Integrin alpha5 expression by the ARPE-19 cell line: comparison with primary RPE cultures and effect of growth medium on the alpha5 gene promoter strength. Proulx, S., Landreville, S., Guérin, S.L., Salesse, C. Exp. Eye Res. (2004) [Pubmed]
  12. Novel mutation in RLBP1 gene in a Japanese patient with retinitis punctata albescens. Nakamura, M., Lin, J., Ito, Y., Miyake, Y. Am. J. Ophthalmol. (2005) [Pubmed]
  13. Homozygous Deletion Related to Alu Repeats in RLBP1 Causes Retinitis Punctata Albescens. Humbert, G., Delettre, C., S??n??chal, A., Bazalgette, C., Barakat, A., Bazalgette, C., Arnaud, B., Lenaers, G., Hamel, C.P. Invest. Ophthalmol. Vis. Sci. (2006) [Pubmed]
  14. Identification of CRALBP ligand interactions by photoaffinity labeling, hydrogen/deuterium exchange, and structural modeling. Wu, Z., Hasan, A., Liu, T., Teller, D.C., Crabb, J.W. J. Biol. Chem. (2004) [Pubmed]
  15. Structural and functional characterization of recombinant human cellular retinaldehyde-binding protein. Crabb, J.W., Carlson, A., Chen, Y., Goldflam, S., Intres, R., West, K.A., Hulmes, J.D., Kapron, J.T., Luck, L.A., Horwitz, J., Bok, D. Protein Sci. (1998) [Pubmed]
  16. Ocular phenotype of bothnia dystrophy, an autosomal recessive retinitis pigmentosa associated with an R234W mutation in the RLBP1 gene. Burstedt, M.S., Forsman-Semb, K., Golovleva, I., Janunger, T., Wachtmeister, L., Sandgren, O. Arch. Ophthalmol. (2001) [Pubmed]
  17. Promoter analysis of RPE65, the gene encoding a 61-kDa retinal pigment epithelium-specific protein. Nicoletti, A., Kawase, K., Thompson, D.A. Invest. Ophthalmol. Vis. Sci. (1998) [Pubmed]
  18. The retinal pigment epithelium: a versatile partner in vision. Bok, D. J. Cell Sci. Suppl. (1993) [Pubmed]
  19. A novel compound heterozygous mutation in the cellular retinaldehyde-binding protein gene (RLBP1) in a patient with retinitis punctata albescens. Demirci, F.Y., Rigatti, B.W., Mah, T.S., Gorin, M.B. Am. J. Ophthalmol. (2004) [Pubmed]
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