The DYRK1A gene provides instructions for making an enzyme that is important in the development of the nervous system. The DYRK1A enzyme is a kinase, which means that it adds a cluster of oxygen and phosphorus atoms (a phosphate group) to other proteins through a process called phosphorylation. Phosphorylation of proteins helps to control (regulate) their activity.
The proteins whose activity the DYRK1A enzyme helps regulate are involved in various processes in cells, including cell growth and division (proliferation) and the process by which cells mature to carry out specific functions (differentiation). In nerve cells (neurons), the DYRK1A enzyme is involved in the formation and maturation of dendritic spines from dendrites. Dendrites are specialized extensions from neurons that are essential for the transmission of nerve impulses. Dendritic spines are small outgrowths from dendrites that further help transmit nerve impulses and increase communication between neurons.
Health Conditions Related to Genetic Changes
Autism spectrum disorder
At least 11 DYRK1A gene mutations have been identified in people with autism spectrum disorder (ASD), a varied condition characterized by impaired social skills, communication problems, and repetitive behaviors. Most people with ASD associated with DYRK1A gene mutations also have other signs and symptoms. In some cases, they have a particular combination of additional features, including intellectual disability, speech problems, anxiety, and an unusually small head (microcephaly). Other signs and symptoms that may occur in these individuals include recurrent seizures (epilepsy), characteristic facial features, weak muscle tone (hypotonia), foot abnormalities, and walking problems (gait disturbance). This pattern of signs and symptoms is sometimes called DYRK1A-related intellectual disability syndrome.
DYRK1A gene mutations result in loss of the DYRK1A enzyme or an enzyme that does not function properly. Impaired or absent DYRK1A enzyme function likely leads to abnormal regulation of gene expression and disrupts proper neural development. However, the specific relationship between DYRK1A gene mutations and the signs and symptoms of ASD, as well as the other features that may occur in people with these mutations, is unclear.More About This Health Condition
Other Names for This Gene
- dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
- dual specificity YAK1-related kinase
- mnb protein kinase homolog hp86
- MNB/DYRK protein kinase
- protein kinase minibrain homolog
- serine/threonine kinase MNB
- serine/threonine-specific protein kinase
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
- Bronicki LM, Redin C, Drunat S, Piton A, Lyons M, Passemard S, Baumann C, Faivre L, Thevenon J, Riviere JB, Isidor B, Gan G, Francannet C, Willems M, Gunel M, Jones JR, Gleeson JG, Mandel JL, Stevenson RE, Friez MJ, Aylsworth AS. Ten new cases further delineate the syndromic intellectual disability phenotype caused by mutations in DYRK1A. Eur J Hum Genet. 2015 Nov;23(11):1482-7. doi: 10.1038/ejhg.2015.29. Epub 2015 Apr 29. Citation on PubMed or Free article on PubMed Central
- Dang T, Duan WY, Yu B, Tong DL, Cheng C, Zhang YF, Wu W, Ye K, Zhang WX, Wu M, Wu BB, An Y, Qiu ZL, Wu BL. Autism-associated Dyrk1a truncation mutants impair neuronal dendritic and spine growth and interfere with postnatal cortical development. Mol Psychiatry. 2018 Mar;23(3):747-758. doi: 10.1038/mp.2016.253. Epub 2017 Feb 7. Citation on PubMed
- Iossifov I, Ronemus M, Levy D, Wang Z, Hakker I, Rosenbaum J, Yamrom B, Lee YH, Narzisi G, Leotta A, Kendall J, Grabowska E, Ma B, Marks S, Rodgers L, Stepansky A, Troge J, Andrews P, Bekritsky M, Pradhan K, Ghiban E, Kramer M, Parla J, Demeter R, Fulton LL, Fulton RS, Magrini VJ, Ye K, Darnell JC, Darnell RB, Mardis ER, Wilson RK, Schatz MC, McCombie WR, Wigler M. De novo gene disruptions in children on the autistic spectrum. Neuron. 2012 Apr 26;74(2):285-99. doi: 10.1016/j.neuron.2012.04.009. Citation on PubMed or Free article on PubMed Central
- O'Roak BJ, Vives L, Fu W, Egertson JD, Stanaway IB, Phelps IG, Carvill G, Kumar A, Lee C, Ankenman K, Munson J, Hiatt JB, Turner EH, Levy R, O'Day DR, Krumm N, Coe BP, Martin BK, Borenstein E, Nickerson DA, Mefford HC, Doherty D, Akey JM, Bernier R, Eichler EE, Shendure J. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science. 2012 Dec 21;338(6114):1619-22. doi: 10.1126/science.1227764. Epub 2012 Nov 15. Citation on PubMed or Free article on PubMed Central
- O'Roak BJ, Vives L, Girirajan S, Karakoc E, Krumm N, Coe BP, Levy R, Ko A, Lee C, Smith JD, Turner EH, Stanaway IB, Vernot B, Malig M, Baker C, Reilly B, Akey JM, Borenstein E, Rieder MJ, Nickerson DA, Bernier R, Shendure J, Eichler EE. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature. 2012 Apr 4;485(7397):246-50. doi: 10.1038/nature10989. Citation on PubMed or Free article on PubMed Central
- van Bon BW, Coe BP, Bernier R, Green C, Gerdts J, Witherspoon K, Kleefstra T, Willemsen MH, Kumar R, Bosco P, Fichera M, Li D, Amaral D, Cristofoli F, Peeters H, Haan E, Romano C, Mefford HC, Scheffer I, Gecz J, de Vries BB, Eichler EE. Disruptive de novo mutations of DYRK1A lead to a syndromic form of autism and ID. Mol Psychiatry. 2016 Jan;21(1):126-32. doi: 10.1038/mp.2015.5. Epub 2015 Feb 24. Citation on PubMed or Free article on PubMed Central
- Wang T, Guo H, Xiong B, Stessman HA, Wu H, Coe BP, Turner TN, Liu Y, Zhao W, Hoekzema K, Vives L, Xia L, Tang M, Ou J, Chen B, Shen Y, Xun G, Long M, Lin J, Kronenberg ZN, Peng Y, Bai T, Li H, Ke X, Hu Z, Zhao J, Zou X, Xia K, Eichler EE. De novo genic mutations among a Chinese autism spectrum disorder cohort. Nat Commun. 2016 Nov 8;7:13316. doi: 10.1038/ncomms13316. Citation on PubMed or Free article on PubMed Central
The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health.