CRB1

Crumbs homolog 1 (Drosophila), also known as CRB1, is a human gene.cite web | title = Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23418| accessdate = ]

PBB_Summary
section_title =
summary_text = 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.cite web | title = Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23418| accessdate = ]

References

Further reading

PBB_Further_reading
citations =
*cite journal | author=den Hollander AI, Davis J, van der Velde-Visser SD, "et al." |title=CRB1 mutation spectrum in inherited retinal dystrophies. |journal=Hum. Mutat. |volume=24 |issue= 5 |pages= 355–69 |year= 2005 |pmid= 15459956 |doi= 10.1002/humu.20093
*cite journal | author=van Soest S, Ingeborgh van den Born L, Gal A, "et al." |title=Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. |journal=Genomics |volume=22 |issue= 3 |pages= 499–504 |year= 1995 |pmid= 8001962 |doi=
*cite journal | author=van Soest S, te Nijenhuis S, van den Born LI, "et al." |title=Fine mapping of the autosomal recessive retinitis pigmentosa locus (RP12) on chromosome 1q; exclusion of the phosducin gene (PDC). |journal=Cytogenet. Cell Genet. |volume=73 |issue= 1-2 |pages= 81–5 |year= 1996 |pmid= 8646891 |doi=
*cite journal | author=den Hollander AI, van Driel MA, de Kok YJ, "et al." |title=Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization. |journal=Genomics |volume=58 |issue= 3 |pages= 240–9 |year= 1999 |pmid= 10373321 |doi= 10.1006/geno.1999.5823
*cite journal | author=den Hollander AI, ten Brink JB, de Kok YJ, "et al." |title=Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). |journal=Nat. Genet. |volume=23 |issue= 2 |pages= 217–21 |year= 1999 |pmid= 10508521 |doi= 10.1038/13848
*cite journal | author=Lotery AJ, Jacobson SG, Fishman GA, "et al." |title=Mutations in the CRB1 gene cause Leber congenital amaurosis. |journal=Arch. Ophthalmol. |volume=119 |issue= 3 |pages= 415–20 |year= 2001 |pmid= 11231775 |doi=
*cite journal | author=den Hollander AI, Heckenlively JR, van den Born LI, "et al." |title=Leber congenital amaurosis and retinitis pigmentosa with Coats-like exudative vasculopathy are associated with mutations in the crumbs homologue 1 (CRB1) gene. |journal=Am. J. Hum. Genet. |volume=69 |issue= 1 |pages= 198–203 |year= 2001 |pmid= 11389483 |doi=
*cite journal | author=Lotery AJ, Malik A, Shami SA, "et al." |title=CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation. |journal=Ophthalmic Genet. |volume=22 |issue= 3 |pages= 163–9 |year= 2001 |pmid= 11559858 |doi=
*cite journal | author=den Hollander AI, Johnson K, de Kok YJ, "et al." |title=CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila. |journal=Hum. Mol. Genet. |volume=10 |issue= 24 |pages= 2767–73 |year= 2002 |pmid= 11734541 |doi=
*cite journal | author=Izaddoost S, Nam SC, Bhat MA, "et al." |title=Drosophila Crumbs is a positional cue in photoreceptor adherens junctions and rhabdomeres. |journal=Nature |volume=416 |issue= 6877 |pages= 178–83 |year= 2002 |pmid= 11850624 |doi= 10.1038/nature720
*cite journal | author=Roh MH, Makarova O, Liu CJ, "et al." |title=The Maguk protein, Pals1, functions as an adapter, linking mammalian homologues of Crumbs and Discs Lost. |journal=J. Cell Biol. |volume=157 |issue= 1 |pages= 161–72 |year= 2002 |pmid= 11927608 |doi= 10.1083/jcb.200109010
*cite journal | author=Gerber S, Perrault I, Hanein S, "et al." |title=A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis. |journal=Ophthalmic Genet. |volume=23 |issue= 4 |pages= 225–35 |year= 2003 |pmid= 12567265 |doi=
*cite journal | author=Khaliq S, Abid A, Hameed A, "et al." |title=Mutation screening of Pakistani families with congenital eye disorders. |journal=Exp. Eye Res. |volume=76 |issue= 3 |pages= 343–8 |year= 2003 |pmid= 12573663 |doi=
*cite journal | author=Jacobson SG, Cideciyan AV, Aleman TS, "et al." |title=Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination. |journal=Hum. Mol. Genet. |volume=12 |issue= 9 |pages= 1073–8 |year= 2003 |pmid= 12700176 |doi=
*cite journal | author=Bernal S, Calaf M, Garcia-Hoyos M, "et al." |title=Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa. |journal=J. Med. Genet. |volume=40 |issue= 7 |pages= e89 |year= 2003 |pmid= 12843338 |doi=
*cite journal | author=Hanein S, Perrault I, Gerber S, "et al." |title=Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. |journal=Hum. Mutat. |volume=23 |issue= 4 |pages= 306–17 |year= 2004 |pmid= 15024725 |doi= 10.1002/humu.20010
*cite journal | author=McKay GJ, Clarke S, Davis JA, "et al." |title=Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 1 |pages= 322–8 |year= 2005 |pmid= 15623792 |doi= 10.1167/iovs.04-0734
*cite journal | author=Kantardzhieva A, Gosens I, Alexeeva S, "et al." |title=MPP5 recruits MPP4 to the CRB1 complex in photoreceptors. |journal=Invest. Ophthalmol. Vis. Sci. |volume=46 |issue= 6 |pages= 2192–201 |year= 2005 |pmid= 15914641 |doi= 10.1167/iovs.04-1417
*cite journal | author=Booij JC, Florijn RJ, ten Brink JB, "et al." |title=Identification of mutations in the AIPL1, CRB1, GUCY2D, RPE65, and RPGRIP1 genes in patients with juvenile retinitis pigmentosa. |journal=J. Med. Genet. |volume=42 |issue= 11 |pages= e67 |year= 2006 |pmid= 16272259 |doi= 10.1136/jmg.2005.035121

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