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Retina International's Scientific Newsletter |
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The Protein Pages Crumbs Homologue 1 (CRB1) To see compiled data on further species click on the topics.
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Retina International's Scientific Newsletter |
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The Protein Pages Crumbs Homologue 1 (CRB1) To see compiled data on further species click on the topics.
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Recent update from: 22.06.00
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Description
CRB1 is a homologue of the drosophily crumbs gene. It is expressed in neural retina, fetal brain, and brain. Its function is currently unknown. Exons: 11 Markers / RFLPs: cen- D1S158- D1S238- D1S422-[5 D1S533/D1S412-F13B- D1S413- CACLN1A3]- D1S477- D1S306- D1S53-tel Transcripts: 5.0 kb Regulatory elements: Primers: complete |
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| Assignment: 1q31-32.1 | Involvement in Retinal Degenerations:
click here to see a compilation of
several Mutations found to underlie |
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| Subunits: 1 | Amino acids: 1376 | |
Functional domains:
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Modifications:
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Mr/ Weight:
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| Cofactors:
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Click on entry to see database record online
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| Protein | Subtype | Locus | Species | EC-No. | Swissprot | PIR | Prosite |
Click on entry to see database record online
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| Gene | Subtype | Locus | Species | Genbank | Unigene | Medline |
| Crumbs Homologue 1 | CRB1 | Homo sapiens | AF154671 NM_012076 | Hs.169745 |
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Click on entry to see database record online
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| Gene | Subtype | Locus | Species | Genome Database | Mouse Genome Database | OMIM | Locus Link |
| Crumbs Homologue 1 | CRB1 | Homo sapiens |
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| 604210 | 23418 |
1. den Hollander,A.I., ten Brink,J.B., de Kok,Y.J., van Soest,S., van den Born,L.I., van Driel,M.A., van de Pol,D.J.R., Payne,A.M., Bhattacharya,S.S., Kellner,U., Hoyng,C.B., Westerveld,A., Brunner,H.G., Bleeker Wagemakers,E.M., Deutman,A.F., Heckenlively J.R., Cremers,F.P.M., Bergen,A.A.B., van de Pol,D.J., Bleeker-Wagemakers,E.M., Heckenlively,J.R., Cremers,F.P., and Bergen,A.A. Mutations in a human homologue of Drosophila crumbs cause retinitis pigmentosa (RP12). 1999; Nat.Genet. 23: 217-221.
Goto Top Link to PudMed
2. van Soest,S., van den Born,L.I., Gal,A., Farrar,G.J., Bleeker Wagemakers,E.M., Westerveld,A., Humphries,P., Sandkuijl,L.A., Bergen,A.A.B., van den Born,I.L., and Bleeker Wagemakers,L.M. Assignment of a gene for autosomal recessive retinitis pigmentosa (RP12) to chromosome 1q31-q32.1 in an inbred and genetically heterogeneous disease population. 1994; Genomics. 22: 499-504.
Goto Top Link to PudMed
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Contact the editor: irpamp@irpa.org |
This site is maintained and edited by
Dr. rer. medic. Markus Preising, Dipl.Biol. Molecular Genetics Laboratory Department of Paediatric Ophthalmology, Strabismology and Ophthalmogenetics University of Regensburg Head: Prof. Dr. med. Birgit Lorenz |
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