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CCBE1 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 Name: | collagen and calcium binding EGF domains 1 |
Synonyms: | CCBE1, KIAA1983 |
Target Sequences: | NM_133459 NP_597716.1 Q6UXH8 |
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