CASK

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CASK

A gene on chromosome Xp11.4 that encodes a calcium/calmodulin-dependent serine protein kinase of the membrane-associated guanylate kinase (MAGUK) family, which are scaffold proteins located at synapses in the brain. CASK is involved in synaptic transmembrane protein anchoring and ion channel trafficking; contributes to neural development and regulating gene expression by interacting with the transcription factor TRB1; binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans; and may mediate a link between the extracellular matrix and the actin cytoskeleton with syndecan and the actin/spectrin-binding protein 4.1.
 
Molecular pathology
CASK mutations are associated with FG syndrome 4, mental retardation and microcephaly with pontine and cerebellar hypoplasia, as well as an X-linked form of mental retardation.
References in periodicals archive ?
HEILBRONN, Germany, March 7 /PRNewswire/ -- Atmel(R) Corporation , a global leader in the development and fabrication of advanced semiconductor solutions, announced today the availability of its ATA6662 stand-alone LIN bus transceiver IC with the industry's best EMC performance (EMC test and conformance test LIN2.
The current consumption can even be further reduced by the device's silent mode function that is unavailable in other LIN2.
23 /PRNewswire-FirstCall/ -- Atmel(R) Corporation , a global leader in the development and fabrication of advanced semiconductor solutions, announced today the availability of its ATA6621 LIN system basis chip (SBC) which complies with the new LIN2.
HEILBRONN, Germany, June 1 /PRNewswire/ -- Atmel(R) Corporation announced today the availability of its new stand-alone LIN bus transceiver IC ATA6661 which complies with the new LIN2.