CCBE1

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,{{Cite journal| doi = 10.1161/CIRCULATIONAHA.113.002779| volume = 129| issue = 19| pages = 1962–71| last1 = Jeltsch| first1 = Michael| last2 = Jha| first2 = Sawan Kumar| last3 = Tvorogov| first3 = Denis| last4 = Anisimov| first4 = Andrey| last5 = Leppänen| first5 = Veli-Matti| last6 = Holopainen| first6 = Tanja| last7 = Kivelä| first7 = Riikka| last8 = Ortega| first8 = Sagrario| last9 = Kärpanen| first9 = Terhi| last10 = Alitalo| first10 = Kari| title = CCBE1 Enhances Lymphangiogenesis via A Disintegrin and Metalloprotease With Thrombospondin Motifs-3-Mediated Vascular Endothelial Growth Factor-C Activation| journal = Circulation| date = 2014| pmid = 24552833| doi-access = free}} which is the main growth factor for the lymphatic system.{{Cite journal| doi = 10.1126/science.276.5317.1423| pmid = 9162011 | volume = 276| issue = 5317| pages = 1423–25| last1 = Jeltsch| first1 = Michael| last2 = Kaipainen| first2 = Arja| last3 = Joukov| first3 = Vladimir| last4 = Meng| first4 = Xiaojuan| last5 = Lakso| first5 = Merja| last6 = Rauvala| first6 = Heikki| last7 = Swartz| first7 = Melody| last8 = Fukumura| first8 = Dai| last9 = Jain| first9 = Rakesh K.| last10 = Alitalo| first10 = Kari| title = Hyperplasia of Lymphatic Vessels in VEGF-C Transgenic Mice| journal = Science| date = 1997}}

Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene,{{cite journal |vauthors=Alders M, Hogan BM, Gjini E, Salehi F, Al-Gazali L, Hennekam EA, Holmberg EE, Mannens MM, Mulder MF, Offerhaus GJ, Prescott TE, Schroor EJ, Verheij JB, Witte M, Zwijnenburg PJ, Vikkula M, Schulte-Merker S, Hennekam RC | title = Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans | journal = Nat. Genet. | volume = 41 | issue = 12 | pages = 1272–4 |date=December 2009 | pmid = 19935664 | doi = 10.1038/ng.484 | s2cid = 205356254 }} and the molecular etiology of the disease has been elucidated.

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• {{UCSC gene info|CCBE1}}

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• {{cite journal |vauthors=Connell F, Kalidas K, Ostergaard P |title=Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia |journal=Hum. Genet. |volume=127 |issue= 2 |pages= 231–41 |year= 2010 |pmid= 19911200 |doi= 10.1007/s00439-009-0766-y |s2cid=6076175 |display-authors=etal|url=http://openaccess.sgul.ac.uk/107128/1/CCBE1%20submitted.pdf }}

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