|Peripheral plasma membrane protein CASK - also named Calcium/calmodulin-dependent serine protein kinase (CASK) - belongs to a family of membrane-associated guanylate kinase proteins. A mutation of this protein leads to different malformation or mental retardation e.g. pontocerebellar hypoplasia.|
Many studies have revealed that CASK is crucial for the synapse formation and is involved in the regulation of gene expression. In mice a mutation of CASK leads to neonatal lethality.
To conclude, it seems to be an important protein for the development of brain. Structurally CASK contains various protein-protein interaction domains and possesses several binding partners.