CCM2 : CCM2 scaffold protein
Description
The CCM2 (CCM2 scaffold protein) is a protein-coding gene located on chromosome 7.
The CCM2 gene provides instructions for making a protein called malcavernin, which strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. Malcavernin interacts with a number of other proteins to form a complex that is found in the junctions that connect neighboring cells. As part of this complex, malcavernin helps turn off (suppress) a signaling molecule known as RhoA-GTPase. This molecule plays a role in regulating the actin cytoskeleton, which is a network of fibers that makes up the cell‘s structural framework. When turned on, RhoA-GTPase stimulates the formation of actin fibers, which has been linked to weakened junctions between cells and increased leakage from blood vessels.Malcavernin is also involved in a process called angiogenesis, which is the formation of new blood vessels.
The CCM2 gene plays a vital role in heart and blood vessel development and maintenance. It likely stabilizes the connections between cells that line blood vessels, contributing to their structural integrity. CCM2 may also act as a scaffolding protein, bringing together other proteins involved in signaling pathways, particularly those involving MAP2K3 and MAP3K3. This suggests that CCM2 participates in regulating the activity of the p38 signaling pathway, which is triggered by environmental stress, potentially impacting how cells respond to changes in their surroundings.
CCM2 is also known as C7orf22, OSM, PP10187.
Associated Diseases
- Cerebral cavernous malformations 2
- Familial cerebral cavernous malformation
- Cerebral cavernous malformation
