calcium/calmodulin dependent serine protein kinase
Gene Summary
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, intellectual disability and microcephaly with pontine and cerebellar hypoplasia, and a form of X-linked intellectual disability. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2017]
Alternative Names
calcium/calmodulin-dependent serin protein kinase calcium/calmodulin-dependent serine protein kinase (MAGUK family) calcium/calmodulin-dependent serine protein kinase membrane-associated guanylate kinase CAMGUK protein CASK membrane associated guanylate kinase MGC7449 OTTHUMP00000023157 OTTHUMP00000023161 OTTHUMP00000023162 peripheral plasma membrane protein CASK-like protein lin-2 homolog RP23-278L4.1 trinucleotide repeat containing 8