CCBE1
Protein-coding gene in humans
From Wikipedia, the free encyclopedia
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.[5][6]
External IDsOMIM: 612753; MGI: 2445053; HomoloGene: 15852; GeneCards: CCBE1; OMA:CCBE1 - orthologs
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]