CASK


Peripheral plasma membrane protein CASK is a protein that in humans is encoded by the CASK gene. This gene is also known by several other names: CMG 2, calcium/calmodulin-dependent serine protein kinase 3 and membrane-associated guanylate kinase 2.

Gene

This gene is located on the short arm of the X chromosome. It is 404,253 bases in length and lies on the Crick strand. The encoded protein has 926 amino acids with a predicted molecular weight of 105,123 Daltons.

Function

This protein is a multidomain scaffolding protein with a role in synaptic transmembrane protein anchoring and ion channel trafficking. It interacts with the transcription factor TBR1 and binds to several cell-surface proteins including neurexins and syndecans.

Clinical importance

This gene has been implicated in X-linked mental retardation, including specifically mental retardation and microcephaly with pontine and cerebellar hypoplasia.

Interactions

CASK has been shown to interact with: