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The CCBE1 gene is mutated in the hereditary human genetic disorder Hennekam Syndrome (HS) Type I. CCBE1 is essential for the the development of the lymphatic system and the primary symptom of HS is generalized lymphedema. The CCBE1 protein consists of two parts (domains), and almost all mutations of the gene localize to the first (N-terminal) domain. This research analyzed the individual importance of the two domains of the CCBE1 protein. The second (C-terminal) domain was necessary for accelerating the activation of the lymphatic growth factor VEGF-C, which had been shown before to be the main task of CCBE1. The N-terminal domain had a less important, but still necessary function for the development of the lymphatics, which, however, was not identified. This data explains, why most mutations that have been identified in humans localize to the N-terminal domain: Most mutations affecting the C-terminal domain are embryonically lethal. The N-terminal domain tolerates apparently more mutations, resulting in sufficient activity of the CCBE1 protein for embryonic survival.

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This page is a summary of: Functional Dissection of the CCBE1 Protein: A Crucial Requirement for the Collagen Repeat Domain, Circulation Research, March 2015, Wolters Kluwer Health, DOI: 10.1161/circresaha.116.304949.
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