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CASK

CASK

Reviewed March 2014

What is the official name of the CASK gene?

The official name of this gene is “calcium/calmodulin-dependent serine protein kinase (MAGUK family).”

CASK is the gene's official symbol. The CASK gene is also known by other names, listed below.

Read more about gene names and symbols on the About page.

What is the normal function of the CASK gene?

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).

How are changes in the CASK gene related to health conditions?

CASK-related intellectual disability - caused by mutations in the CASK gene

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, which is also associated with changes in the CASK gene.

Where is the CASK gene located?

Cytogenetic Location: Xp11.4

Molecular Location on the X chromosome: base pairs 41,514,933 to 41,923,154

The CASK gene is located on the short (p) arm of the X chromosome at position 11.4.

The CASK gene is located on the short (p) arm of the X chromosome at position 11.4.

More precisely, the CASK gene is located from base pair 41,514,933 to base pair 41,923,154 on the X chromosome.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about CASK?

You and your healthcare professional may find the following resources about CASK helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the CASK gene or gene products?

  • CAMGUK
  • CMG
  • CSKP_HUMAN
  • hCASK
  • LIN2
  • protein lin-2 homolog
  • TNRC8

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding CASK?

calcium ; disability ; gene ; hypoplasia ; involuntary ; ions ; kinase ; microcephaly ; neurotransmitters ; nystagmus ; protein ; serine ; syndrome

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (10 links)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: March 2014
Published: October 9, 2014