Family

Cerebral cavernous malformations 2 (IPR026159)

Short name: Malcavernin

Family relationships

None.

Description

Cerebral cavernous malformations 2 (CCM2, also known Malcavernin) is a component of the cerebral cavernous malformations (CCM) signalling pathway. The CCM pathway is a crucial regulator of heart and vessel formation and integrity, and aberrations in the pathway cause CCM pathogenesis, resulting in congenital vascular anomalies of the central nervous system [PMID: 21962164].

CCM2 may also function as a scaffold protein for MAP2K3-MAP3K3 signalling. It seems to play a major role in the modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock [PMID: 14634666].

Contributing signatures

Signatures from InterPro member databases are used to construct an entry.
PANTHER