collagen and calcium-binding EGF domain-containing protein 1
FLJ30681
Biotype
protein coding gene
Automated Description
Enables collagen binding activity and protease binding activity. Involved in lymphangiogenesis; positive regulation of gene expression; and positive regulation of vascular endothelial growth factor signaling pathway. Located in extracellular matrix and extracellular space. Implicated in Hennekam syndrome.
RGD Description
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]