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.
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, which is the main growth factor for the lymphatic system.
Clinical significance.
Hennekam syndrome type I (a generalized lymphatic dysplasia in humans) is associated with mutations in the CCBE1 gene, and the molecular etiology of the disease has been elucidated.
References.
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Further reading.
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"This article incorporates text from the United States National Library of Medicine, which is in the public domain."