The KRIT1 gene (also known as CCM1) provides instructions for making a protein that strengthens the interactions between cells that form blood vessels and limits leakage from the vessels. The KRIT1 protein 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, the KRIT1 protein 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.
Other Names
ankyrin repeat-containing protein Krit1; CAM; CCM1; cerebral cavernous malformations 1; krev interaction trapped 1; KRIT1_HUMAN
Related Genetics Topics
Identifiers
- NCBI Gene: 889
- OMIM: 604214
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
