CCBE1

collagen and calcium binding EGF domains 1

The CCBE1 gene provides instructions for making a protein that is found in the lattice of proteins and other molecules outside the cell (extracellular matrix). The CCBE1 protein is involved in the formation of the lymphatic system, which consists of a network of vessels that transport lymph fluid and immune cells throughout the body. Specifically, the CCBE1 protein helps guide maturation (differentiation) and movement (migration) of immature cells called lymphangioblasts that will eventually form the lining (epithelium) of lymphatic vessels.

At least 13 mutations in the CCBE1 gene have been found to cause Hennekam syndrome, an inherited disorder resulting from malformation of the lymphatic system. Most CCBE1 gene mutations change single protein building blocks (amino acids) in the CCBE1 protein leading to a change in the three-dimensional shape of the protein. The abnormal protein cannot play its role in the formation of the lymphatic vessel epithelium. A poorly formed lymphatic system leads to lymphatic vessels that are abnormally expanded (lymphangiectasia) and are prone to break open (rupture), puffiness or swelling caused by a buildup of fluid (lymphedema), and other features of Hennekam syndrome. CCBE1 gene mutations account for about 25 percent of all cases of Hennekam syndrome.

Cytogenetic Location: 18q21.32, which is the long (q) arm of chromosome 18 at position 21.32

Molecular Location: base pairs 59,430,939 to 59,698,181 on chromosome 18 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 18q21.32, which is the long (q) arm of chromosome 18 at position 21.32
  • collagen and calcium-binding EGF domain-containing protein 1
  • FLJ30681
  • full of fluid protein homolog
  • KIAA1983