Gene: CCBE1
Alternate names for this Gene: HKLLS1
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.
Gene is located in Chromosome: 18
Location in Chromosome : 18q21.32
Description of this Gene: collagen and calcium binding EGF domains 1
Type of Gene: protein-coding