malcavernin (cerebral cavernous malformations 2 protein, CCM2, C7orf22, PP10187)

Function

• scaffold protein for MAP2K3-MAP3K3 signaling
• modulation of MAP3K3-dependent p38 activation induced by hyperosmotic shock
• component of complex with MAP2K3, MAP3K3 & RAC1
• binds RAC1 directly & independently of its nucleotide-binding

Compartment

cytoplasm

Pathology

• defects in CCM2 results in cerebral cavernous malformations 2

More general terms

• other protein

Additional terms

• cerebral cavernous malformation

Database

• OMIM: https://mirror.omim.org/entry/607929
• UniProt: http://www.uniprot.org/uniprot/Q9BSQ5.html