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Official Full Name
calcium/calmodulin-dependent serine protein kinase (MAGUK family)
Background
This gene encodes a calcium/calmodulin-dependent serine protein kinase. The encoded protein is a MAGUK;(membrane-associated guanylate kinase) protein family member. These proteins are scaffold proteins and the encoded;protein is located at synapses in the brain. Mutations in this gene are associated with FG syndrome 4, mental;retardation and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked mental retardation.;Multiple transcript variants encoding different isoforms have been found for this gene.
Synonyms
CASK; calcium/calmodulin-dependent serine protein kinase (MAGUK family); TNRC8, trinucleotide repeat containing 8; peripheral plasma membrane protein CASK; CAGH39; FGS4; LIN2; hCASK; protein lin-2 homolog; trinucleotide repeat containing 8; calcium/calmo; calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase; CMG; TNRC8; CAMGUK; MICPCH; MRXSNA; FLJ22219; FLJ31914