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Reviewed November 2012
What is the official name of the CCM2 gene?
The official name of this gene is “cerebral cavernous malformation 2.”
CCM2 is the gene's official symbol. The CCM2 gene is also known by other names, listed below.
Read more about gene names and symbols on the About page.
What is the normal function of the CCM2 gene?
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.
How are changes in the CCM2 gene related to health conditions?
Where is the CCM2 gene located?
Cytogenetic Location: 7p13
Molecular Location on chromosome 7: base pairs 44,999,745 to 45,076,469
The CCM2 gene is located on the short (p) arm of chromosome 7 at position 13.
More precisely, the CCM2 gene is located from base pair 44,999,745 to base pair 45,076,469 on chromosome 7.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about CCM2?
You and your healthcare professional may find the following resources about CCM2 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
What other names do people use for the CCM2 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
Where can I find general information about genes?
The Handbook provides basic information about genetics in clear language.
These links provide additional genetics resources that may be useful.
What glossary definitions help with understanding CCM2?
actin ; angiogenesis ; cavernous ; cell ; cerebral hemorrhage ; chromosome ; cytoskeleton ; familial ; gene ; hemorrhage ; malformation ; molecule ; open reading frame ; permeability ; protein ; reading frame
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (13 links)
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.