Cask

Cask

Cask (/kæsk/), also known as CASK in the medical field, is a gene that in humans is encoded by the CASK gene. It is a member of the membrane-associated guanylate kinase (MAGUK) family.

Etymology

The term "Cask" is an acronym derived from the names of the proteins "Calcium/calmodulin-dependent serine protein kinase" and "Lin-2".

Function

The protein encoded by the CASK gene is a multidomain protein that functions as a scaffolding protein to couple neurotransmitter receptors to intracellular signaling pathways. It is involved in several cellular processes including, but not limited to, synaptic transmission, gene expression, and cell adhesion.

Clinical significance

Mutations in the CASK gene have been associated with mental retardation and microcephaly with pontine and cerebellar hypoplasia, an X-linked dominant disorder with severe effect on the brain structure.

Related terms

• MAGUK protein family
• Neurotransmitter
• Gene expression
• Cell adhesion
• Mental retardation
• Microcephaly
• Pontine hypoplasia
• Cerebellar hypoplasia

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