CRB1

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Crumbs homolog 1 (Drosophila)
Identifiers
Symbols CRB1 ; LCA8; RP12
External IDs OMIM604210 MGI2136343 HomoloGene8092 GeneCards: CRB1 Gene
RNA expression pattern
PBB GE CRB1 220522 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez 23418 170788
Ensembl ENSG00000134376 ENSMUSG00000063681
UniProt P82279 Q8VHS2
RefSeq (mRNA) NM_001193640 NM_133239
RefSeq (protein) NP_001180569 NP_573502
Location (UCSC) Chr 1:
197.17 – 197.45 Mb
Chr 1:
139.2 – 139.38 Mb
PubMed search [1] [2]

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.[1][2][3]

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.[3] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.[4]

References[edit]

  1. ^ den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP (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. PMID 10373321. 
  2. ^ den Hollander AI, ten Brink JB, de Kok YJ, van Soest S, van den Born LI, van Driel MA, van de Pol DJ, Payne AM, Bhattacharya SS, Kellner U, Hoyng CB, Westerveld A, Brunner HG, Bleeker-Wagemakers EM, Deutman AF, Heckenlively JR, Cremers FP, Bergen AA (Oct 1999). "Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12)". Nat Genet 23 (2): 217–21. doi:10.1038/13848. PMID 10508521. 
  3. ^ a b "Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)". 
  4. ^ McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee R, Malicki J (April 2009). "CRB1 GENE MUTATIONS ARE ASSOCIATED WITH KERATOCONUS IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS". Invest. Ophthalmol. Vis. Sci. 50 (7): 3185–7. doi:10.1167/iovs.08-2886. PMID 19407021. 

External links[edit]

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