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ccm2

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Official Full Name
cerebral cavernous malformation 2
Background
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.
Synonyms
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