Calcium/ calmodulin-dependent serine kinase (CASK) is a causative gene of X-linked mental retardation and microcephaly with pontine and cerebellar hypoplasia (OMIM #300749). Mutations in the human CASK gene result in neonatal lethality, brain malformation, and mental retardation,1"5 indicating a critical role of CASK in brain development and function.At the molecular level, CASK contains several protein-protein interaction domains and acts as a multidomain scaffolding protein. Echoing the phe-notypes identified in patients, CASK has been shown to regulate synapse formation in both pre- and postsynaptic manners.7'8 At presynaptic sites, CASK forms two protein complexes for the interaction with the transmembrane protein neurexin: Mintl-CASK-VeU and Caskin-CASK-Veli.
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