Aliases for CCBE1 Gene
External Ids for CCBE1 Gene
This gene is thought to function in extracellular matrix remodeling and migration. It is predominantly expressed in the ovary, but down regulated in ovarian cancer cell lines and primary carcinomas, suggesting its role as a tumour suppressor. Mutations in this gene have been associated with Hennekam lymphangiectasia-lymphedema syndrome, a generalized lymphatic dysplasia in humans. [provided by RefSeq, Mar 2010]
GeneCards Summary for CCBE1 Gene
CCBE1 (Collagen And Calcium Binding EGF Domains 1) is a Protein Coding gene. Diseases associated with CCBE1 include hennekam lymphangiectasia-lymphedema syndrome 1 and hennekam syndrome. GO annotations related to this gene include calcium ion binding and collagen binding.
UniProtKB/Swiss-Prot for CCBE1 Gene
Required for lymphangioblast budding and angiogenic sprouting from venous endothelium during embryogenesis.