Gene Symbol | CCBE1 |
Entrez Gene ID | 147372 |
Full Name | collagen and calcium binding EGF domains 1 |
Synonyms | HKLLS1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Mar 2010]. |
Disorder MIM: | |
Disorder Html: | Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3) |