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<!-- The PBB_Controls template provides controls for Protein Box Bot, please see Template:PBB_Controls for details. -->
{{Infobox_gene}}
{{PBB_Controls
'''Crumbs homolog 1''' is a [[protein]] that in humans is encoded by the ''CRB1'' [[gene]].<ref name="pmid10373321">{{cite journal | vauthors = den Hollander AI, van Driel MA, de Kok YJ, van de Pol DJ, Hoyng CB, Brunner HG, Deutman AF, Cremers FP | title = Isolation and mapping of novel candidate genes for retinal disorders using suppression subtractive hybridization | journal = Genomics | volume = 58 | issue = 3 | pages = 240–9 |date=Jul 1999 | pmid = 10373321 | pmc =  | doi = 10.1006/geno.1999.5823 }}</ref><ref name="pmid10508521">{{cite journal | vauthors = 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 | title = Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12) | journal = Nat Genet | volume = 23 | issue = 2 | pages = 217–21 |date=Oct 1999 | pmid = 10508521 | pmc = | doi = 10.1038/13848 }}</ref><ref name="entrez">{{cite web | title = Entrez Gene: CRB1 crumbs homolog 1 (Drosophila)| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=23418| accessdate = }}</ref>
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<!-- The GNF_Protein_box is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
This gene encodes a [[protein]] which is similar to the [[Drosophila]] ''crumbs'' protein and localizes to the inner segment of mammalian [[Photoreceptor cell|photoreceptor]]s. 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]]. [[Alternative splicing|Alternatively spliced]] transcript variants have been observed but their full-length nature has yet to be determined.<ref name="entrez"/> One small study suggests that mutations in this gene are associated with [[keratoconus]] in patients that already have Leber's congenital amaurosis.<!--
{{GNF_Protein_box
| image = 
| image_source = 
| PDB =
| Name = Crumbs homolog 1 (Drosophila)
| HGNCid = 2343
| Symbol = CRB1
| AltSymbols =; LCA8; RP12
| OMIM = 604210
| ECnumber = 
| Homologene = 8092
| MGIid = 2136343
| GeneAtlas_image1 = PBB_GE_CRB1_220522_at_tn.png
| Function = {{GNF_GO|id=GO:0005509 |text = calcium ion binding}}
| Component = {{GNF_GO|id=GO:0016020 |text = membrane}} {{GNF_GO|id=GO:0016021 |text = integral to membrane}}
| Process = {{GNF_GO|id=GO:0007163 |text = establishment and/or maintenance of cell polarity}} {{GNF_GO|id=GO:0007267 |text = cell-cell signaling}} {{GNF_GO|id=GO:0007601 |text = visual perception}} {{GNF_GO|id=GO:0016044 |text = membrane organization and biogenesis}} {{GNF_GO|id=GO:0042462 |text = eye photoreceptor cell development}} {{GNF_GO|id=GO:0050896 |text = response to stimulus}}
| Orthologs = {{GNF_Ortholog_box
    | Hs_EntrezGene = 23418
    | Hs_Ensembl = ENSG00000134376
    | Hs_RefseqProtein = NP_957705
    | Hs_RefseqmRNA = NM_201253
    | Hs_GenLoc_db = 
    | Hs_GenLoc_chr = 1
    | Hs_GenLoc_start = 195504031
    | Hs_GenLoc_end = 195714208
    | Hs_Uniprot = P82279
    | Mm_EntrezGene = 170788
    | Mm_Ensembl = ENSMUSG00000063681
    | Mm_RefseqmRNA = NM_133239
    | Mm_RefseqProtein = NP_573502
    | Mm_GenLoc_db = 
    | Mm_GenLoc_chr = 1
    | Mm_GenLoc_start = 141014754
    | Mm_GenLoc_end = 141193511
    | Mm_Uniprot = Q7TSG9
  }}
}}
'''Crumbs homolog 1 (Drosophila)''', also known as '''CRB1''', is a human [[gene]].<ref name="entrez">{{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 = }}</ref>


<!-- The PBB_Summary template is automatically maintained by Protein Box Bot.  See Template:PBB_Controls to Stop updates. -->
--><ref name="pmid19407021">{{cite journal |vauthors=McMahon TT, Kim LS, Fishman GA, Stone EM, Zhao XC, Yee R, Malicki J |title=CRB1 GENE MUTATIONS ARE ASSOCIATED WITH KERATOCONUS IN PATIENTS WITH LEBER CONGENITAL AMAUROSIS |journal=[[Invest. Ophthalmol. Vis. Sci.]] |volume= 50|issue= 7|pages= 3185–7|date=April 2009 |pmid=19407021 |doi=10.1167/iovs.08-2886 |url=}}</ref>
{{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.<ref name="entrez">{{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 = }}</ref>
}}


==References==
==References==
{{reflist|2}}
{{Reflist}}
 
==External links==
* [https://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=rp-overview  GeneReviews/NIH/NCBI/UW entry on Retinitis Pigmentosa Overview]
* {{UCSC gene info|CRB1}}
 
==Further reading==
==Further reading==
{{refbegin | 2}}
{{Refbegin | 2}}
{{PBB_Further_reading  
{{PBB_Further_reading
| citations =  
| 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=den Hollander AI |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  |name-list-format=vanc| author2=Davis J  | author3=van der Velde-Visser SD  | display-authors=3  | last4=Zonneveld  | first4=Marijke N.  | last5=Pierrottet  | first5=Chiara O.  | last6=Koenekoop  | first6=Robert K.  | last7=Kellner  | first7=Ulrich | last8=Van Den Born  | first8=L. Ingeborgh  | last9=Heckenlively  | first9=John R. }}
*{{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 |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=10.1006/geno.1994.1422 |name-list-format=vanc| author2=Ingeborgh van den Born L  | author3=Gal A  | display-authors=3  | last4=Farrar  | first4=GJ  | last5=Bleeker-Wagemakers  | first5=LM  | last6=Westerveld | first6=A  | last7=Humphries  | first7=P  | last8=Sandkuijl  | first8=LA  | last9=Bergen  | first9=AA  }}
*{{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=van Soest S |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=10.1159/000134313  |name-list-format=vanc| author2=te Nijenhuis S | author3=van den Born LI | display-authors=3  | last4=Bleeker-Wagemakers  | first4=E.M. | last5=Sharp  | first5=E.  | last6=Sandkuijl  | first6=L.A.  | last7=Westerveld  | first7=A.  | last8=Bergen  | first8=A.A.B. }}
*{{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=Lotery AJ |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=  10.1001/archopht.119.3.415|name-list-format=vanc| author2=Jacobson SG | author3=Fishman GA  | display-authors=3  | last4=Weleber  | first4=RG  | last5=Fulton  | first5=AB  | last6=Namperumalsamy  | first6=P  | last7=Héon | first7=E  | last8=Levin  | first8=AV  | last9=Grover  | first9=S  }}
*{{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=den Hollander AI |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=10.1086/321263  | pmc=1226034 |name-list-format=vanc| author2=Heckenlively JR  | author3=van den Born LI  | display-authors=3  | last4=De Kok  | first4=Yvette J.M.  | last5=Van Der Velde-Visser  | first5=Saskia D.  | last6=Kellner  | first6=Ulrich  | last7=Jurklies  | first7=Bernhard  | last8=Van Schooneveld  | first8=Mary J. | last9=Blankenagel  | first9=Anita  }}
*{{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=Lotery AJ |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=10.1076/opge.22.3.163.2222 |name-list-format=vanc| author2=Malik A | author3=Shami SA  | display-authors=3  | last4=Sindhi  | first4=Mehtab  | last5=Chohan  | first5=Bashir  | last6=Maqbool  | first6=Captain | last7=Moore | first7=Paula A. | last8=Denton  | first8=Michael J. | last9=Stone  | first9=Edwin M. }}
*{{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=den Hollander AI |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=10.1093/hmg/10.24.2767 |name-list-format=vanc| author2=Johnson K  | author3=de Kok YJ  | display-authors=3  | last4=Klebes  | first4=A  | last5=Brunner  | first5=HG  | last6=Knust  | first6=E  | last7=Cremers  | first7=FP  }}
*{{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=Izaddoost S |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  |name-list-format=vanc| author2=Nam SC  | author3=Bhat MA  | display-authors=3  | last4=Bellen  | first4=Hugo J.  | last5=Choi  | first5=Kwang-Wook }}
*{{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=Roh MH |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  | pmc=2173254  |name-list-format=vanc| author2=Makarova O | author3=Liu CJ  | display-authors=3  | last4=Shin  | first4=K  | last5=Lee  | first5=S  | last6=Laurinec  | first6=S  | last7=Goyal  | first7=M  | last8=Wiggins  | first8=R  | last9=Margolis  | first9=B }}
*{{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=Gerber S |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=10.1076/opge.23.4.225.13879  |name-list-format=vanc| author2=Perrault I  | author3=Hanein S  | display-authors=3  | last4=Shalev  | first4=Stavit  | last5=Zlotogora  | first5=Joel  | last6=Barbet  | first6=Fabienne  | last7=Ducroq  | first7=Dominique  | last8=Dufier  | first8=Jean-Louis  | last9=Munnich  | first9=Arnold  }}
*{{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=Khaliq S |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=10.1016/S0014-4835(02)00304-4  |name-list-format=vanc| author2=Abid A  | author3=Hameed A  | display-authors=3  | last4=Anwar  | first4=Khalid  | last5=Mohyuddin  | first5=Aisha  | last6=Azmat  | first6=Zobia  | last7=Shami  | first7=S.A  | last8=Ismail  | first8=Muhammad  | last9=Mehdi  | first9=S.Qasim  }}
*{{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=Jacobson SG |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=10.1093/hmg/ddg117  |name-list-format=vanc| author2=Cideciyan AV  | author3=Aleman TS  | display-authors=3  | last4=Pianta  | first4=MJ  | last5=Sumaroka  | first5=A  | last6=Schwartz  | first6=SB  | last7=Smilko  | first7=EE  | last8=Milam  | first8=AH  | last9=Sheffield  | first9=VC  }}
*{{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=Bernal S |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=10.1136/jmg.40.7.e89  | pmc=1735523  |name-list-format=vanc| author2=Calaf M  | author3=Garcia-Hoyos M  | display-authors=3  | last4=Garcia-Sandoval  | first4=B  | last5=Rosell  | first5=J  | last6=Adan  | first6=A  | last7=Ayuso  | first7=C  | last8=Baiget  | first8=M  }}
*{{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=Hanein S |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  |name-list-format=vanc| author2=Perrault I  | author3=Gerber S  | display-authors=3  | last4=Tanguy  | first4=Gaëlle  | last5=Barbet  | first5=Fabienne  | last6=Ducroq  | first6=Dominique  | last7=Calvas  | first7=Patrick  | last8=Dollfus  | first8=Hélène  | last9=Hamel  | first9=Christian }}
*{{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=McKay GJ |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  |name-list-format=vanc| author2=Clarke S  | author3=Davis JA  | display-authors=3  | last4=Simpson  | first4=DA  | last5=Silvestri  | first5=G }}
*{{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=Kantardzhieva A |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  |name-list-format=vanc| author2=Gosens I  | author3=Alexeeva S  | display-authors=3  | last4=Punte  | first4=IM  | last5=Versteeg  | first5=I  | last6=Krieger  | first6=E  | last7=Neefjes-Mol  | first7=CA  | last8=Den Hollander  | first8=AI  | last9=Letteboer  | first9=SJ }}
*{{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=Booij JC |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  | pmc=1735944  |name-list-format=vanc| author2=Florijn RJ  | author3=ten Brink JB  | display-authors=3  | last4=Loves  | first4=W  | last5=Meire  | first5=F  | last6=Van Schooneveld  | first6=MJ  | last7=De Jong  | first7=PT  | last8=Bergen  | first8=AA }}
*{{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 }}
}}
}}
{{refend}}
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Latest revision as of 10:01, 30 August 2017

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Identifiers
Aliases
External IDsGeneCards: [1]
Orthologs
SpeciesHumanMouse
Entrez

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Ensembl

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UniProt

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RefSeq (mRNA)

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RefSeq (protein)

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Location (UCSC)n/an/a
PubMed searchn/an/a
Wikidata
View/Edit Human

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

  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. ↑ 3.0 3.1 "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

Further reading


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