Species Human Entrez 147372 | Human Mouse Ensembl ENSG00000183287 | |
Aliases CCBE1, HKLLS1, collagen and calcium binding EGF domains 1 External IDs MGI: 2445053 HomoloGene: 15852 GeneCards: CCBE1 | ||
Collagen and calcium-binding EGF domain-containing protein 1 is a protein that in humans is encoded by the CCBE1 gene.
Contents
Function
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 tumor suppressor.
Clinical significance
Mutation in the CCBE1 gene may be associated with Hennekam syndrome, a generalized lymphatic dysplasia in humans .
References
CCBE1 Wikipedia(Text) CC BY-SA