CCM2
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The CCM2 gene contains 10 coding exons and an alternatively spliced exon 1B. This gene is located on chromosome 7p13 and loss of function mutations on CCM2 lead to the onset of cerebral cavernous malformations (CCM) illness.[1] Cerebral cavernous malformations (CCMs) are vascular malformations in the brain and spinal cord made of dilated capillary vessels.
Protein
[edit | edit source]Malcavernin is a protein that in humans is encoded by the CCM2 gene.[2][3] The normal function of malcavernin is to act as a scaffold for a variety of signaling complexes including p38 MAP Kinase.[4] This protein is also involved in regulating the cellular localization of the KRIT1 protein[5] and acts with the Rho Kinase signaling pathway to maintain normal blood vessel structure.[6][7]
References
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External links
[edit | edit source]- Human CCM2 genome location and CCM2 gene details page in the UCSC Genome Browser.
- Human OSM genome location and OSM gene details page in the UCSC Genome Browser.
Further reading
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