CCBE1 Gene

The CCBE1 gene (CCBE1 stands for "Collagen And Calcium Binding EGF Domains 1") is a protein coding gene located on chromosome 18q21.32.

The protein encoded by this gene is required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.

The gene is predominantly expressed in the ovary. It is downregulated in cell lines from ovarian carcinoma. From this finding, it can be inferred that the gene has a role as a tumor suppressor gene.

Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphoedema syndrome type 1, a generalized lymphoid dysplasia in humans.

1. Alders M et al. (2014) Hennekam syndrome can be caused by FAT4 mutations and be allelic to Van Maldergem syndrome. Hum Genet 133: 1161-1167.
2. Alders M et al (2009) Mutations in CCBE1 cause generalized lymph vessel dysplasia in humans. Nature Genet 41: 1272-1274.
3. Connell F et al (2010) Linkage and sequence analysis indicate that CCBE1 is mutated in recessively inherited generalised lymphatic dysplasia. Hum Genet 127: 231-241.
4. Hennekam RCM et al (1989) Autosomal recessive intestinal lymphangiectasia and lymphedema, with facial anomalies and mental retardation. Am J Med Genet 34: 593-600.