Protein-coding gene in the species Homo sapiens
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene .[5] [6]
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 ,[7] which is the main growth factor for the lymphatic system.[8]
Clinical significance
Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene,[9] and the molecular etiology of the disease has been elucidated.[7]
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Connell F, Kalidas K, Ostergaard P, et al. (2010). "Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia" (PDF) . Hum. Genet . 127 (2): 231–41. doi :10.1007/s00439-009-0766-y . PMID 19911200 . S2CID 6076175 .
This article incorporates text from the United States National Library of Medicine , which is in the public domain .