Premium
Calcium/calmodulin‐dependent serine protein kinase and mental retardation
Author(s) -
Hsueh YiPing
Publication year - 2009
Publication title -
annals of neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.764
H-Index - 296
eISSN - 1531-8249
pISSN - 0364-5134
DOI - 10.1002/ana.21755
Subject(s) - cask , guanylate kinase , postsynaptic density , postsynaptic potential , calmodulin , microbiology and biotechnology , biology , protein kinase a , neuroscience , kinase , genetics , membrane protein , biochemistry , receptor , membrane , enzyme
Abstract Calcium/calmodulin‐dependent serine protein kinase (CASK) belongs to the membrane‐associated guanylate kinase protein family. The members of this protein family function as multiple domain adaptor proteins originally identified at cell junctions and synapses. Insertional mutations or targeted disruption of the CASK gene in mice results in neonatal lethality, indicating an important role for CASK in development. Recently, several reports have also indicated that mutations in the human CASK gene result in X‐linked malformations of the brain and mental retardation. At the molecular level, many studies indicate that CASK is critical for synapse formation at both presynaptic and postsynaptic junctions, and in the regulation of gene expression. The known molecular functions of CASK explain, at least partially, mental retardation and brain developmental defects in patients. In this review, recent findings about CASK are summarized and discussed. Ann Neurol 2009;66:438–443