CRB1

Template:Short description Template:Cs1 config An Error has occurred retrieving Wikidata item for infobox Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.

This gene encodes a protein which is similar to the Drosophila crumbs protein and localizes to the inner segment of mammalian photoreceptors. In Drosophila, crumbs localizes to the stalk of the fly photoreceptor and may be a component of the molecular scaffold that controls proper development of polarity in the eye. Mutations in this gene are associated with a severe form of retinitis pigmentosa, RP12, and with Leber congenital amaurosis. Alternatively spliced transcript variants have been observed but their full-length nature has yet to be determined. One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.

External links

• GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview
• Template:UCSC gene info

Further reading

• den Hollander AI, Davis J, van der Velde-Visser SD, Zonneveld MN, Pierrottet CO, Koenekoop RK, et al. (2005). "CRB1 mutation spectrum in inherited retinal dystrophies". Hum. Mutat. 24 (5): 355–69. doi:10.1002/humu.20093. PMID 15459956. S2CID 40014453.
• van Soest S, Ingeborgh van den Born L, Gal A, Farrar GJ, Bleeker-Wagemakers LM, Westerveld A, et al. (1995). "Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population". Genomics. 22 (3): 499–504. doi:10.1006/geno.1994.1422. PMID 8001962.
• van Soest S, te Nijenhuis S, van den Born LI, Bleeker-Wagemakers E, Sharp E, Sandkuijl L, et al. (1996). "Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC)". Cytogenet. Cell Genet. 73 (1–2): 81–5. doi:10.1159/000134313. PMID 8646891.
• Lotery AJ, Jacobson SG, Fishman GA, Weleber RG, Fulton AB, Namperumalsamy P, et al. (2001). "Mutations in the CRB1 gene cause Leber congenital amaurosis". Arch. Ophthalmol. 119 (3): 415–20. doi:10.1001/archopht.119.3.415. PMID 11231775.
• den Hollander AI, Heckenlively JR, van den Born LI, De Kok YJ, Van Der Velde-Visser SD, Kellner U, et al. (2001). "Leber Congenital Amaurosis and Retinitis Pigmentosa with Coats-like Exudative Vasculopathy Are Associated with Mutations in the Crumbs Homologue 1 (CRB1) Gene". Am. J. Hum. Genet. 69 (1): 198–203. doi:10.1086/321263. PMC 1226034. PMID 11389483.
• Lotery AJ, Malik A, Shami SA, Sindhi M, Chohan B, Maqbool C, et al. (2001). "CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation". Ophthalmic Genet. 22 (3): 163–9. doi:10.1076/opge.22.3.163.2222. PMID 11559858. S2CID 38623616.
• den Hollander AI, Johnson K, de Kok YJ, Klebes A, Brunner HG, Knust E, et al. (2002). "CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila". Hum. Mol. Genet. 10 (24): 2767–73. doi:10.1093/hmg/10.24.2767. PMID 11734541.
• Izaddoost S, Nam SC, Bhat MA, Bellen HJ, Choi KW (2002). "Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres". Nature. 416 (6877): 178–83. Bibcode:2002Natur.416..178I. doi:10.1038/nature720. PMID 11850624. S2CID 4334240.
• Roh MH, Makarova O, Liu CJ, Shin K, Lee S, Laurinec S, et al. (2002). "The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost". J. Cell Biol. 157 (1): 161–72. doi:10.1083/jcb.200109010. PMC 2173254. PMID 11927608.
• Gerber S, Perrault I, Hanein S, Shalev S, Zlotogora J, Barbet F, et al. (2003). "A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis". Ophthalmic Genet. 23 (4): 225–35. doi:10.1076/opge.23.4.225.13879. PMID 12567265. S2CID 25525786.
• Khaliq S, Abid A, Hameed A, Anwar K, Mohyuddin A, Azmat Z, et al. (2003). "Mutation screening of Pakistani families with congenital eye disorders". Exp. Eye Res. 76 (3): 343–8. doi:10.1016/S0014-4835(02)00304-4. PMID 12573663.
• Jacobson SG, Cideciyan AV, Aleman TS, Pianta MJ, Sumaroka A, Schwartz SB, et al. (2003). "Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination". Hum. Mol. Genet. 12 (9): 1073–8. doi:10.1093/hmg/ddg117. PMID 12700176.
• Bernal S, Calaf M, Garcia-Hoyos M, Garcia-Sandoval B, Rosell J, Adan A, et al. (2003). "Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa". J. Med. Genet. 40 (7): e89. doi:10.1136/jmg.40.7.e89. PMC 1735523. PMID 12843338.
• Hanein S, Perrault I, Gerber S, Tanguy G, Barbet F, Ducroq D, et al. (2004). "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis" (PDF). Hum. Mutat. 23 (4): 306–17. doi:10.1002/humu.20010. hdl:10400.17/2439. PMID 15024725. S2CID 10313190.
• McKay GJ, Clarke S, Davis JA, Simpson DA, Silvestri G (2005). "Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene". Invest. Ophthalmol. Vis. Sci. 46 (1): 322–8. doi:10.1167/iovs.04-0734. PMID 15623792.
• Kantardzhieva A, Gosens I, Alexeeva S, Punte IM, Versteeg I, Krieger E, et al. (2005). "MPP5 recruits MPP4 to the CRB1 complex in photoreceptors". Invest. Ophthalmol. Vis. Sci. 46 (6): 2192–201. doi:10.1167/iovs.04-1417. PMID 15914641.
• Booij JC, Florijn RJ, ten Brink JB, Loves W, Meire F, Van Schooneveld MJ, et al. (2006). "Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa". J. Med. Genet. 42 (11): e67. doi:10.1136/jmg.2005.035121. PMC 1735944. PMID 16272259.