Biology:CCBE1
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Short description: Protein-coding gene in humans
 Generic protein structure example |
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.[1][2]
Function
CCBE1 is a regulator of the development and growth of the lymphatic system. CCBE1 is necessary for the proteolytic activation of VEGF-C by ADAMTS3,[3] which is the main growth factor for the lymphatic system.[4]
Clinical significance
Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene,[5] and the molecular etiology of the disease has been elucidated.[3]
References
- ↑ "Entrez Gene: collagen and calcium binding EGF domains 1". https://www.ncbi.nlm.nih.gov/gene?Db=gene&Cmd=ShowDetailView&TermToSearch=147372.
- ↑ "Prediction of the coding sequences of unidentified human genes. XXII. The complete sequences of 50 new cDNA clones which code for large proteins". DNA Res. 8 (6): 319–27. December 2001. doi:10.1093/dnares/8.6.319. PMID 11853319.
- ↑ 3.0 3.1 Jeltsch, Michael; Jha, Sawan Kumar; Tvorogov, Denis; Anisimov, Andrey; Leppänen, Veli-Matti; Holopainen, Tanja; Kivelä, Riikka; Ortega, Sagrario et al. (2014). "CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation". Circulation 129 (19): 1962–71. doi:10.1161/CIRCULATIONAHA.113.002779. PMID 24552833.
- ↑ Jeltsch, Michael; Kaipainen, Arja; Joukov, Vladimir; Meng, Xiaojuan; Lakso, Merja; Rauvala, Heikki; Swartz, Melody; Fukumura, Dai et al. (1997). "Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice". Science 276 (5317): 1423–25. doi:10.1126/science.276.5317.1423. PMID 9162011.
- ↑ "Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans". Nat. Genet. 41 (12): 1272–4. December 2009. doi:10.1038/ng.484. PMID 19935664.
External links
- Human CCBE1 genome location and CCBE1 gene details page in the UCSC Genome Browser.
Further reading
- "Collagen and calcium-binding EGF domains 1 is frequently inactivated in ovarian cancer by aberrant promoter hypermethylation and modulates cell migration and survival". Br. J. Cancer 102 (1): 87–96. 2010. doi:10.1038/sj.bjc.6605429. PMID 19935792.
- "Multilocus analysis of GAW15 NARAC chromosome 18 case-control data". BMC Proceedings 1 (Suppl 1): S11. 2007. doi:10.1186/1753-6561-1-S1-S11. PMID 18466450.
- "Complete sequencing and characterization of 21,243 full-length human cDNAs". Nat. Genet. 36 (1): 40–5. 2004. doi:10.1038/ng1285. PMID 14702039.
- "Molecular Genetics of Successful Smoking Cessation: Convergent Genome-Wide Association Study Results". Arch. Gen. Psychiatry 65 (6): 683–93. 2008. doi:10.1001/archpsyc.65.6.683. PMID 18519826.
- "Ccbe1 is required for embryonic lymphangiogenesis and venous sprouting". Nat. Genet. 41 (4): 396–8. 2009. doi:10.1038/ng.321. PMID 19287381.
- "The Secreted Protein Discovery Initiative (SPDI), a Large-Scale Effort to Identify Novel Human Secreted and Transmembrane Proteins: A Bioinformatics Assessment". Genome Res. 13 (10): 2265–70. 2003. doi:10.1101/gr.1293003. PMID 12975309.
- "Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences". Proc. Natl. Acad. Sci. U.S.A. 99 (26): 16899–903. 2002. doi:10.1073/pnas.242603899. PMID 12477932. Bibcode: 2002PNAS...9916899M.
- "Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia". Hum. Genet. 127 (2): 231–41. 2010. doi:10.1007/s00439-009-0766-y. PMID 19911200. http://openaccess.sgul.ac.uk/107128/1/CCBE1%20submitted.pdf.
This article incorporates text from the United States National Library of Medicine, which is in the public domain.
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