CASK(redirected from trinucleotide repeat containing 81 2)
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Related to trinucleotide repeat containing 81 2: Trinucleotide repeat expansion, Trinucleotide repeat disorders
CASKA 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.
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.