Official Full Name
cerebral cavernous malformation 2
This gene encodes a scaffold protein that functions in the stress-activated p38 Mitogen-activated protein kinase (MAPK) signaling cascade. The protein interacts with SMAD specific E3 ubiquitin protein ligase 1 (also known as SMURF1) via a phosphotyrosine binding domain to promote RhoA degradation. The protein is required for normal cytoskeletal structure, cell-cell interactions, and lumen formation in endothelial cells. Mutations in this gene result in cerebral cavernous malformations. Multiple transcript variants encoding different isoforms have been found for this gene.
CCM2; cerebral cavernous malformation 2; C7orf22, chromosome 7 open reading frame 22; malcavernin; MGC4607; C7orf22; CCM2_HUMAN; Cerebral cavernous malformations 2 protein; MGC4067; MGC74868; OTTHUMP00000159554; OTTHUMP00000214270; OTTHUMP00000214271; OTTHUMP00000214273; PP10187; OSM; vtn; valentine; zgc:110233; si:dkeyp-86f6.1; TUF2; cerebral cavernous malformations protein 2 homolog