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CCM2
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CCM2

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Reviewed November 2006

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.

What is the normal function of the CCM2 gene?

The CCM2 gene provides instructions for making a protein called malcavernin. The structure of this protein leads researchers to believe that malcavernin may play a critical role in the interaction between the cells forming blood vessels and the nervous tissue surrounding them. This interaction guides the movement and structure of cells that will form mature blood vessels in the brain and spinal cord (the central nervous system). Research suggests that malcalvernin may also help maintain the structure and function of these blood vessels after they have formed.

How are changes in the CCM2 gene related to health conditions?

cerebral cavernous malformation - caused by mutations in the CCM2 gene

Dozens of mutations have been identified in the CCM2 gene. Most of these mutations result in an abnormally shortened or malformed malcavernin protein. These altered versions of the protein probably do not allow the cells involved in blood vessel formation to interact properly with their surrounding tissues, leading to the signs and symptoms of cerebral cavernous malformations.

Mutations in the CCM2 gene may account for up to 38 percent of familial cerebral cavernous malformation cases.

Where is the CCM2 gene located?

Cytogenetic Location: 7p13

Molecular Location on chromosome 7: base pairs 45,006,311 to 45,082,593

The CCM2 gene is located on the short (p) arm of chromosome 7 at position 13.

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 45,006,311 to base pair 45,082,593 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?

  • C7orf22
  • CCM2_HUMAN
  • chromosome 7 open reading frame 22
  • MGC4067
  • MGC4607

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?

cavernous ; cell ; central nervous system ; chromosome ; familial ; gene ; malformation ; mutation ; nervous system ; open reading frame ; protein ; reading frame ; sign ; symptom ; tissue

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

References (11 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.

 
Reviewed: November 2006
Published: February 6, 2009