CASK gene

calcium/calmodulin dependent serine protein kinase

The CASK gene provides instructions for making a protein called calcium/calmodulin-dependent serine protein kinase (CASK). The CASK protein is primarily found in nerve cells (neurons) in the brain, where it helps control the activity (expression) of other genes that are involved in brain development. It also helps regulate the movement of chemicals called neurotransmitters and of charged atoms (ions), which are necessary for signaling between neurons. Research suggests that the CASK protein may also interact with the protein produced from another gene, FRMD7, to promote development of the nerves that control eye movement (the oculomotor neural network).

More than 35 CASK gene mutations have been identified in people with CASK-related intellectual disability. This disorder affects brain development and has two main forms: a severe form called microcephaly with pontine and cerebellar hypoplasia (MICPCH), and a milder form called X-linked intellectual disability (XL-ID) with or without nystagmus.

The mutations that cause CASK-related intellectual disability affect the role of the CASK protein in brain development and function. MICPCH is caused by mutations that eliminate CASK function, while mutations that impair the function of this protein cause XL-ID with or without nystagmus. Nystagmus refers to rapid, involuntary back-and-forth eye movements. Affected individuals with nystagmus may have CASK gene mutations that disrupt the interaction between the CASK protein and the protein produced from the FRMD7 gene, leading to problems with the development of the oculomotor neural network and resulting in abnormal eye movements.

Genetics Home Reference provides information about FG syndrome.

Cytogenetic Location: Xp11.4, which is the short (p) arm of the X chromosome at position 11.4

Molecular Location: base pairs 41,514,934 to 41,923,554 on the X chromosome (Homo sapiens Updated Annotation Release 109.20200522, GRCh38.p13) (NCBI)

Cytogenetic Location: Xp11.4, which is the short (p) arm of the X chromosome at position 11.4
  • calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CMG
  • hCASK
  • LIN2
  • protein lin-2 homolog
  • TNRC8