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CASK gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

CASK gene

The CASK gene provides instructions for making a protein that plays a critical role in brain development and the function of nerve cells.

Normal Function

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).

Health Conditions Related to Genetic Changes

CASK-related intellectual disability

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.

FG syndrome

MedlinePlus Genetics provides information about FG syndrome.

Other Names for This Gene

  • calcium/calmodulin-dependent serine protein kinase (MAGUK family)
  • CAMGUK
  • CMG
  • CSKP_HUMAN
  • hCASK
  • LIN2
  • protein lin-2 homolog
  • TNRC8

Frequently Asked Questions

Early signs may include hypotonia (low muscle tone), delayed achievement of motor milestones such as sitting or walking, and in some cases, microcephaly (smaller than average head size) in the severe form. Eye movement abnormalities like nystagmus may also be present. Diagnosis is usually confirmed through genetic testing that identifies mutations in the CASK gene. Brain imaging, such as an MRI, may be used to assess structural abnormalities in the brain, particularly in cases suspected of being the severe MICPCH form, which shows distinct underdevelopment of specific brain regions.
The severity of CASK-related intellectual disability depends on how the mutation affects the CASK protein. The severe form, known as microcephaly with pontine and cerebellar hypoplasia (MICPCH), is caused by mutations that completely eliminate the function of the CASK protein, leading to significant underdevelopment of the brain, particularly the cerebellum and pons, and resulting in severe intellectual disability and motor issues. The milder form, X-linked intellectual disability (XL-ID), is caused by mutations that reduce but do not completely eliminate CASK protein function, leading to milder cognitive impairment and often specific eye movement abnormalities like nystagmus.
Nystagmus, or involuntary back-and-forth eye movements, occurs in some individuals with CASK mutations because the CASK protein interacts with another protein called FRMD7 to help develop the neural networks that control eye movement. Mutations that disrupt this specific interaction can impair the development of the oculomotor neural network, leading to abnormal eye movements. This feature is more commonly associated with the milder X-linked intellectual disability form of the disorder rather than the severe MICPCH form.
CASK-related intellectual disability is inherited in an X-linked pattern. This means the gene is located on the X chromosome. Males, who have one X and one Y chromosome, are more severely affected because they have only one copy of the gene. Females, who have two X chromosomes, may be carriers or have milder symptoms if one copy is mutated. A female carrier has a 50 percent chance of passing the mutated gene to each child; sons who inherit it will typically have the condition, while daughters will be carriers. Genetic counseling is recommended for families to understand these inheritance patterns and risks.
Source: MedlinePlus, National Library of Medicine

MedlinePlus brings together authoritative health information from the National Library of Medicine (NLM), the National Institutes of Health (NIH), and other government agencies and health-related organizations.

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