Cerebral Cavernous Malformations 1

Ankyrin Repeat-Containing Protein KRIT1, encoded by the CCM1 gene, interacts with ICAP-1 and may be involved in bidirectional signaling between integrin molecules and the cytoskeleton. KRIT1 may help determine endothelial cell shape and function in response to cell-cell and cell-matrix interactions by guiding cytoskeletal structure. Defects in the CCM1 gene are responsible for the development of cerebral cavernous malformations, a relatively rare disease causing vascular malformations that may involve any part of the central nervous system. KRIT1 may affect cell adhesion processes via integrin signaling in CCM1 pathogenesis. KRIT1 also interacts with RAP1A (a member of the Ras family of GTPases) and may be involved in the RAP1A signal transduction pathway in vasculogenesis or angiogenesis. KRIT1 contains 4 ankyrin repeats, 1 band 4.1-like domain, and 1 FERM domain. (From NCI) (NCI Thesaurus)

YOU MAY ALSO LIKE

Cerebral Cavernous Malformation

A disorder characterized by malformations in the structure of the capillaries in the brain. It is caused by mutations in the CCM2,…

Cerebral Blood Flow

Perfusion of blood through the cerebrum.

Cerebral Atrophy

Atrophy of the cerebrum caused by focal or generalized neuronal loss.

Cerebral Artery

Any artery supplying the cerebral cortex.

Cerebral Arteriovenous Malformation

An abnormal connection between arteries and veins characterized by the absence of intervening capillaries in the brain. Signs and symptoms include headaches,…

Cerebral Arterial Aneurysm

A balloon type pouch or bulge in the wall of a cerebral artery.