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.
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.
Where is the CASK gene located?
Cytogenetic Location: Xp11.4
Molecular Location on the X chromosome: base pairs 41,514,934 to 41,923,078
(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBI (http://www.ncbi.nlm.nih.gov/gene/8573))
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 41,514,934 to base pair 41,923,078 on the X chromosome.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about CASK?
You and your healthcare professional may find the following resources about CASK helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/books/NBK169825)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for CASK (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=8573%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=%28CASK%5BTIAB%5D%29%20AND%20%28%28Genes%5BMH%5D%29%20OR%20%28Genetic%20Phenomena%5BMH%5D%29%29%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/300172)
Research Resources - Tools for researchers
- Atlas of Genetics and Cytogenetics in Oncology and Haematology (http://atlasgeneticsoncology.org/Genes/GC_CASK.html)
- HGNC Gene Family: Membrane-associated guanylate kinases (http://www.genenames.org/cgi-bin/genefamilies/set/904)
- HGNC Gene Family: Trinucleotide repeat containing (http://www.genenames.org/cgi-bin/genefamilies/set/775)
- HGNC Gene Symbol Report (http://www.genenames.org/cgi-bin/gene_symbol_report?q=data/hgnc_data.php&hgnc_id=1497)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8573)
What other names do people use for the CASK gene or gene products?
- protein lin-2 homolog
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding CASK?
You may find definitions for these and many other terms in the Genetics Home Reference
- Burglen L, Chantot-Bastaraud S, Garel C, Milh M, Touraine R, Zanni G, Petit F, Afenjar A, Goizet C, Barresi S, Coussement A, Ioos C, Lazaro L, Joriot S, Desguerre I, Lacombe D, des Portes V, Bertini E, Siffroi JP, de Villemeur TB, Rodriguez D. Spectrum of pontocerebellar hypoplasia in 13 girls and boys with CASK mutations: confirmation of a recognizable phenotype and first description of a male mosaic patient. Orphanet J Rare Dis. 2012 Mar 27;7:18. doi: 10.1186/1750-1172-7-18. (http://www.ncbi.nlm.nih.gov/pubmed/22452838?dopt=Abstract)
- OMIM: CALCIUM/CALMODULIN-DEPENDENT SERINE PROTEIN KINASE (http://omim.org/entry/300172)
- Gene Review: CASK-Related Disorders (http://www.ncbi.nlm.nih.gov/books/NBK169825)
- Hackett A, Tarpey PS, Licata A, Cox J, Whibley A, Boyle J, Rogers C, Grigg J, Partington M, Stevenson RE, Tolmie J, Yates JR, Turner G, Wilson M, Futreal AP, Corbett M, Shaw M, Gecz J, Raymond FL, Stratton MR, Schwartz CE, Abidi FE. CASK mutations are frequent in males and cause X-linked nystagmus and variable XLMR phenotypes. Eur J Hum Genet. 2010 May;18(5):544-52. doi: 10.1038/ejhg.2009.220. Epub 2009 Dec 23. Erratum in: Eur J Hum Genet. 2010 May;18(5):552. (http://www.ncbi.nlm.nih.gov/pubmed/20029458?dopt=Abstract)
- Hayashi S, Okamoto N, Chinen Y, Takanashi J, Makita Y, Hata A, Imoto I, Inazawa J. Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH). Hum Genet. 2012 Jan;131(1):99-110. doi: 10.1007/s00439-011-1047-0. Epub 2011 Jul 7. (http://www.ncbi.nlm.nih.gov/pubmed/21735175?dopt=Abstract)
- Hsueh YP. Calcium/calmodulin-dependent serine protein kinase and mental retardation. Ann Neurol. 2009 Oct;66(4):438-43. doi: 10.1002/ana.21755. Review. (http://www.ncbi.nlm.nih.gov/pubmed/19847910?dopt=Abstract)
- Moog U, Kutsche K, Kortüm F, Chilian B, Bierhals T, Apeshiotis N, Balg S, Chassaing N, Coubes C, Das S, Engels H, Van Esch H, Grasshoff U, Heise M, Isidor B, Jarvis J, Koehler U, Martin T, Oehl-Jaschkowitz B, Ortibus E, Pilz DT, Prabhakar P, Rappold G, Rau I, Rettenberger G, Schlüter G, Scott RH, Shoukier M, Wohlleber E, Zirn B, Dobyns WB, Uyanik G. Phenotypic spectrum associated with CASK loss-of-function mutations. J Med Genet. 2011 Nov;48(11):741-51. doi: 10.1136/jmedgenet-2011-100218. Epub 2011 Sep 27. (http://www.ncbi.nlm.nih.gov/pubmed/21954287?dopt=Abstract)
- Najm J, Horn D, Wimplinger I, Golden JA, Chizhikov VV, Sudi J, Christian SL, Ullmann R, Kuechler A, Haas CA, Flubacher A, Charnas LR, Uyanik G, Frank U, Klopocki E, Dobyns WB, Kutsche K. Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat Genet. 2008 Sep;40(9):1065-7. doi: 10.1038/ng.194. (http://www.ncbi.nlm.nih.gov/pubmed/19165920?dopt=Abstract)
- NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/8573)
- Watkins RJ, Patil R, Goult BT, Thomas MG, Gottlob I, Shackleton S. A novel interaction between FRMD7 and CASK: evidence for a causal role in idiopathic infantile nystagmus. Hum Mol Genet. 2013 May 15;22(10):2105-18. doi: 10.1093/hmg/ddt060. Epub 2013 Feb 12. (http://www.ncbi.nlm.nih.gov/pubmed/23406872?dopt=Abstract)
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
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.