Entrez gene ID | | 147372 |
Official gene symbol | | CCBE1 |
Full name | | collagen and calcium binding EGF domains 1 |
Aliases | | ,FLJ30681,MGC50861, |
Gene summary | | 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] |
Location | | Chromosome: 18 Locus: 18q21.32 |
Gene position | | 57364644 - 57098171 Map Viewer |
Gene orientation | | minus |
Gene size | | 266474 bp |
Gene sequence |
| |
OMIM ID | | 612753 |
|