Aliases for CASK Gene
External Ids for CASK Gene
Previous Symbols for CASK Gene
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.[provided by RefSeq, Mar 2010]
GeneCards Summary for CASK Gene
CASK (Calcium/Calmodulin-Dependent Serine Protein Kinase (MAGUK Family)) is a Protein Coding gene. Diseases associated with CASK include mental retardation and microcephaly with pontine and cerebellar hypoplasia and fg syndrome 4. Among its related pathways are Degradation of the extracellular matrix and Non-integrin membrane-ECM interactions. GO annotations related to this gene include protein serine/threonine kinase activity and neurexin family protein binding. An important paralog of this gene is MPP6.
UniProtKB/Swiss-Prot for CASK Gene
Multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. Contributes to neural development and regulation of gene expression via interaction with the transcription factor TBR1. Binds to cell-surface proteins, including amyloid precursor protein, neurexins and syndecans. May mediate a link between the extracellular matrix and the actin cytoskeleton via its interaction with syndecan and with the actin/spectrin-binding protein 4.1