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.
Other Names
C7orf22; CCM2 scaffolding protein; CCM2_HUMAN; cerebral cavernous malformation 2; chromosome 7 open reading frame 22; MGC4067; MGC4607; OSM
Related Genetics Topics
Identifiers
- NCBI Gene: 83605
- OMIM: 607929
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
