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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?
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.
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?
See How are genetic conditions and genes named? in the Handbook.
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?
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.