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Crumbs homolog 1 is a protein that in humans is encoded by the CRB1gene.[5][6][7]
This gene encodes a protein which is similar to the Drosophilacrumbs 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.[7] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.[8]
^"Human PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^"Mouse PubMed Reference:". National Center for Biotechnology Information, U.S. National Library of Medicine.
^den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, et al. (Jul 1999). "Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization". Genomics. 58 (3): 240–9. doi:10.1006/geno.1999.5823. PMID10373321.
^den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, et al. (Oct 1999). "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)". Nat Genet. 23 (2): 217–21. doi:10.1038/13848. PMID10508521. S2CID11578020.
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. PMID8001962.
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. PMID8646891.
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. PMID11559858. S2CID38623616.
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. PMID12567265. S2CID25525786.
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. PMID12573663.
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. PMID15623792.
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. PMID15914641.
This page was last edited on 27 March 2024, at 15:17