background:
This gene is thought to function in extracellular matrixremodeling and migration. It is predominantly expressed in theovary, but down regulated in ovarian cancer cell lines and primarycarcinomas, suggesting its role as a tumour suppressor. Mutationsin this gene have been associated with Hennekamlymphangiectasia-lymphedema syndrome, a generalized lymphaticdysplasia in humans. [provided by RefSeq, Mar 2010].
Function:
Required for lymphangioblast budding and angiogenicsprouting from venous endothelium during embryogenesis.
Subcellular Location:
Secreted (Potential).
DISEASE:
Defects in CCBE1 are the cause of Hennekamlymphangiectasia-lymphedema syndrome (HLLS) [MIM:235510]. HLLS is ageneralized lymph-vessels dysplasia characterized by intestinallymphangiectasia with severe lymphedema of the limbs, genitalia andface. In addition, affected individuals have unusual facies andsevere mental retardation.
Similarity:
Belongs to the CCBE1 family. Contains 1 EGF-like domain.
Database links:
UniProtKB/Swiss-Prot: Q6UXH8.1
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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