Gene Review:
CCM2 - cerebral cavernous malformation 2
Homo sapiens
Synonyms:
C7orf22, Cerebral cavernous malformations 2 protein, MGC4607, Malcavernin, OSM, ...
- Deletions in CCM2 Are a Common Cause of Cerebral Cavernous Malformations. Liquori, C.L., Berg, M.J., Squitieri, F., Leedom, T.P., Ptacek, L., Johnson, E.W., Marchuk, D.A. Am. J. Hum. Genet. (2007)
- Mutations within the MGC4607 gene cause cerebral cavernous malformations. Denier, C., Goutagny, S., Labauge, P., Krivosic, V., Arnoult, M., Cousin, A., Benabid, A.L., Comoy, J., Frerebeau, P., Gilbert, B., Houtteville, J.P., Jan, M., Lapierre, F., Loiseau, H., Menei, P., Mercier, P., Moreau, J.J., Nivelon-Chevallier, A., Parker, F., Redondo, A.M., Scarabin, J.M., Tremoulet, M., Zerah, M., Maciazek, J., Tournier-Lasserve, E. Am. J. Hum. Genet. (2004)
- CCM1 and CCM2 protein interactions in cell signaling: implications for cerebral cavernous malformations pathogenesis. Zawistowski, J.S., Stalheim, L., Uhlik, M.T., Abell, A.N., Ancrile, B.B., Johnson, G.L., Marchuk, D.A. Hum. Mol. Genet. (2005)
- CCM2 expression parallels that of CCM1. Seker, A., Pricola, K.L., Guclu, B., Ozturk, A.K., Louvi, A., Gunel, M. Stroke (2006)
- Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Craig, H.D., Günel, M., Cepeda, O., Johnson, E.W., Ptacek, L., Steinberg, G.K., Ogilvy, C.S., Berg, M.J., Crawford, S.C., Scott, R.M., Steichen-Gersdorf, E., Sabroe, R., Kennedy, C.T., Mettler, G., Beis, M.J., Fryer, A., Awad, I.A., Lifton, R.P. Hum. Mol. Genet. (1998)
- Mouse preimplantation embryo responses to culture medium osmolarity include increased expression of CCM2 and p38 MAPK activation. Fong, B., Watson, P.H., Watson, A.J. BMC Dev. Biol. (2007)
- Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Liquori, C.L., Berg, M.J., Siegel, A.M., Huang, E., Zawistowski, J.S., Stoffer, T., Verlaan, D., Balogun, F., Hughes, L., Leedom, T.P., Plummer, N.W., Cannella, M., Maglione, V., Squitieri, F., Johnson, E.W., Rouleau, G.A., Ptacek, L., Marchuk, D.A. Am. J. Hum. Genet. (2003)
- Cerebral cavernous malformation 2 protein promotes smad ubiquitin regulatory factor 1-mediated RhoA degradation in endothelial cells. Crose, L.E., Hilder, T.L., Sciaky, N., Johnson, G.L. J. Biol. Chem. (2009)