CRB1

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CRB1
Available structures
PDB Ortholog search: PDBe RCSB
Identifiers
Aliases CRB1, LCA8, RP12, crumbs 1, cell polarity complex component
External IDs MGI: 2136343 HomoloGene: 8092 GeneCards: CRB1
RNA expression pattern
PBB GE CRB1 220522 at fs.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_001193640
NM_001257965
NM_001257966
NM_012076
NM_201253

NM_133239

RefSeq (protein)

NP_001180569
NP_001244894
NP_001244895
NP_957705

NP_573502.2
NP_573502

Location (UCSC) Chr 1: 197.27 – 197.48 Mb Chr 1: 139.2 – 139.38 Mb
PubMed search [1] [2]
Wikidata
View/Edit Human View/Edit Mouse

Crumbs homolog 1 is a protein that in humans is encoded by the CRB1 gene.[3][4][5]

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.[5] One small study suggests that mutations in this gene are associated with keratoconus in patients that already have Leber's congenital amaurosis.[6]

References[edit]

  1. ^ "Human PubMed Reference:". 
  2. ^ "Mouse PubMed Reference:". 
  3. ^ 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. 
  4. ^ 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. 
  5. ^ a b "Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)". 
  6. ^ 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]

Further reading[edit]