DISEASES

Disease-gene associations mined from literature

Literature associating CCM2 and cerebral cavernous malformation 1

CCM2 [ENSP00000370503]

Cerebral cavernous malformations 2 protein; Component of the CCM signaling pathway which is a crucial regulator of heart and vessel formation and integrity. May act through the stabilization of endothelial cell junctions (By similarity). May function as a scaffold protein for MAP2K3-MAP3K3 signaling. Seems to play a major role in the modulation of MAP3K3- dependent p38 activation induced by hyperosmotic shock (By similarity).

Synonyms:  CCM2,  CCM2p,  hCCM2,  C9JUH3,  E9PEC4 ...

Linkouts:  STRING  Pharos  UniProt  OMIM