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Crumbs Homolog 1 (CRB1)

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LCA8; RP12

Crumbs Homolog 1 (CRB1)
CCC F775
HGNC 2343
MGI 2136343
PubMed 24811962
RGD 1309947
UniProt P82279
Wiki CRB1
Crumbs homolog 1 is 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.

Organism species: Homo sapiens (Human)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Crumbs Homolog 1 (CRB1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Crumbs Homolog 1 (CRB1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Crumbs Homolog 1 (CRB1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Crumbs Homolog 1 (CRB1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Crumbs Homolog 1 (CRB1) ELISA Kit Customized Service Offer

Organism species: Mus musculus (Mouse)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Crumbs Homolog 1 (CRB1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Crumbs Homolog 1 (CRB1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Crumbs Homolog 1 (CRB1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Crumbs Homolog 1 (CRB1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Crumbs Homolog 1 (CRB1) ELISA Kit Customized Service Offer

Organism species: Rattus norvegicus (Rat)

CATALOG NO. PRODUCT NAME APPLICATIONS
Proteins n/a Recombinant Crumbs Homolog 1 (CRB1) Recombinant Protein Customized Service Offer
Antibodies n/a Monoclonal Antibody to Crumbs Homolog 1 (CRB1) Monoclonal Antibody Customized Service Offer
n/a Polyclonal Antibody to Crumbs Homolog 1 (CRB1) Polyclonal Antibody Customized Service Offer
Assay Kits n/a CLIA Kit for Crumbs Homolog 1 (CRB1) CLIA Kit Customized Service Offer
n/a ELISA Kit for Crumbs Homolog 1 (CRB1) ELISA Kit Customized Service Offer
  1. "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)."Nat. Genet. 23:217-221(1999) [PubMed] [Europe PMC] [Abstract]
  2. "CRB1 has a cytoplasmic domain that is functionally conserved between human and Drosophila."Hum. Mol. Genet. 10:2767-2773(2001) [PubMed] [Europe PMC] [Abstract]
  3. "MPP5 recruits MPP4 to the CRB1 complex in photoreceptors."Invest. Ophthalmol. Vis. Sci. 46:2192-2201(2005) [PubMed] [Europe PMC] [Abstract]
  4. "The full-ORF clone resource of the German cDNA consortium."BMC Genomics 8:399-399(2007) [PubMed] [Europe PMC] [Abstract]
  5. "Complete sequencing and characterization of 21,243 full-length human cDNAs." Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
  6. "The DNA sequence and biological annotation of human chromosome 1." Nature 441:315-321(2006) [PubMed] [Europe PMC] [Abstract]
  7. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
  8. "A novel mutation disrupting the cytoplasmic domain of CRB1 in a large consanguineous family of Palestinian origin affected with Leber congenital amaurosis."Ophthalmic Genet. 23:225-235(2002) [PubMed] [Europe PMC] [Abstract]
  9. "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. 69:198-203(2001) [PubMed] [Europe PMC] [Abstract]
  10. ErratumAm. J. Hum. Genet. 69:1160-1160(2001)
  11. "Mutations in the CRB1 gene cause Leber congenital amaurosis."Arch. Ophthalmol. 119:415-420(2001) [PubMed] [Europe PMC] [Abstract]
  12. "CRB1 mutations may result in retinitis pigmentosa without para-arteriolar RPE preservation."Ophthalmic Genet. 22:163-169(2001) [PubMed] [Europe PMC] [Abstract]
  13. "Mutation screening of Pakistani families with congenital eye disorders."Exp. Eye Res. 76:343-348(2003) [PubMed] [Europe PMC] [Abstract]
  14. "Crumbs homolog 1 (CRB1) mutations result in a thick human retina with abnormal lamination."Hum. Mol. Genet. 12:1073-1078(2003) [PubMed] [Europe PMC] [Abstract]
  15. "Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa."J. Med. Genet. 40:E89-E89(2003) [PubMed] [Europe PMC] [Abstract]
  16. "Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis."Hum. Mutat. 23:306-317(2004) [PubMed] [Europe PMC] [Abstract]
  17. "CRB1 mutation spectrum in inherited retinal dystrophies."Hum. Mutat. 24:355-369(2004) [PubMed] [Europe PMC] [Abstract]
  18. "Pigmented paravenous chorioretinal atrophy is associated with a mutation within the crumbs homolog 1 (CRB1) gene."Invest. Ophthalmol. Vis. Sci. 46:322-328(2005) [PubMed] [Europe PMC] [Abstract]
  19. "Clinical phenotypes in carriers of Leber congenital amaurosis mutations."Ophthalmology 112:349-356(2005) [PubMed] [Europe PMC] [Abstract]
  20. "Evaluation of genotype-phenotype associations in Leber congenital amaurosis."Retina 25:919-929(2005) [PubMed] [Europe PMC] [Abstract]
  21. "Gene symbol: CRB1. Disease: early onset retinitis pigmentosa."Hum. Genet. 119:681-681(2006) [PubMed] [Europe PMC] [Abstract]
  22. "CRB1 heterozygotes with regional retinal dysfunction: implications for genetic testing of Leber congenital amaurosis."Invest. Ophthalmol. Vis. Sci. 47:3736-3744(2006) [PubMed] [Europe PMC] [Abstract]
  23. "The consensus coding sequences of human breast and colorectal cancers." Science 314:268-274(2006) [PubMed] [Europe PMC] [Abstract]
  24. "Gene symbol: CRB1."Hum. Genet. 120:914-914(2007) [PubMed] [Europe PMC] [Abstract]
  25. "Clinical and molecular genetics of Leber's congenital amaurosis: a multicenter study of Italian patients."Invest. Ophthalmol. Vis. Sci. 48:4284-4290(2007) [PubMed] [Europe PMC] [Abstract]
  26. "Identification of novel mutations in patients with Leber congenital amaurosis and juvenile RP by genome-wide homozygosity mapping with SNP microarrays."Invest. Ophthalmol. Vis. Sci. 48:5690-5698(2007) [PubMed] [Europe PMC] [Abstract]
  27. "Molecular characterization of Leber congenital amaurosis in Koreans."Mol. Vis. 14:1429-1436(2008) [PubMed] [Europe PMC] [Abstract]
  28. "Genetic heterogeneity in two consanguineous families segregating early onset retinal degeneration: the pitfalls of homozygosity mapping."Am. J. Med. Genet. A 149:650-656(2009) [PubMed] [Europe PMC] [Abstract]
  29. "Molecular characterization of retinitis pigmentosa in Saudi Arabia."Mol. Vis. 15:2464-2469(2009) [PubMed] [Europe PMC] [Abstract]
  30. "Novel human pathological mutations. Gene symbol: CRB1. Disease: Leber congenital amaurosis."Hum. Genet. 127:119-119(2010) [PubMed] [Europe PMC] [Abstract]
  31. "Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes."Hum. Mutat. 31:E1709-E1766(2010) [PubMed] [Europe PMC] [Abstract]
  32. "Development of a diagnostic genetic test for simplex and autosomal recessive retinitis pigmentosa."Ophthalmology 117:2169-2177(2010) [PubMed] [Europe PMC] [Abstract]
  33. "Identification of novel mutations in Pakistani families with autosomal recessive retinitis pigmentosa."Arch. Ophthalmol. 129:1377-1378(2011) [PubMed] [Europe PMC] [Abstract]
  34. "Phenotypic variability in patients with retinal dystrophies due to mutations in CRB1."Br. J. Ophthalmol. 95:811-817(2011) [PubMed] [Europe PMC] [Abstract]
  35. "Molecular genetic analysis of retinitis pigmentosa in Indonesia using genome-wide homozygosity mapping."Mol. Vis. 17:3013-3024(2011) [PubMed] [Europe PMC] [Abstract]
  36. "Detection of variants in 15 genes in 87 unrelated Chinese patients with Leber congenital amaurosis."PLoS ONE 6:E19458-E19458(2011) [PubMed] [Europe PMC] [Abstract]
  37. "CRB1 mutations in inherited retinal dystrophies."Hum. Mutat. 33:306-315(2012) [PubMed] [Europe PMC] [Abstract]
  38. "Next-generation genetic testing for retinitis pigmentosa." Hum. Mutat. 33:963-972(2012) [PubMed] [Europe PMC] [Abstract]