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DYRK1A gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

DYRK1A gene

The DYRK1A gene encodes an enzyme critical for nervous system development, and mutations in this gene are associated with autism spectrum disorder and intellectual disability.

Normal Function

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 phosphate group to other proteins through a process called phosphorylation. Phosphorylation of proteins helps to control (regulate) their activity.

The proteins regulated by the DYRK1A enzyme are involved in cell growth, division (proliferation), and maturation (differentiation). In nerve cells (neurons), the DYRK1A enzyme is involved in the formation and maturation of dendritic spines from dendrites. Dendritic spines are small outgrowths from dendrites that 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 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, including intellectual disability, speech problems, anxiety, and an unusually small head (microcephaly). Other signs may 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.

Other Names for This Gene

  • dual specificity tyrosine-(Y)-phosphorylation regulated kinase 1A
  • dual specificity YAK1-related kinase
  • DYRK
  • DYRK1
  • HP86
  • MNB
  • mnb protein kinase homolog hp86
  • MNB/DYRK protein kinase
  • MNBH
  • MRD7
  • protein kinase minibrain homolog
  • serine/threonine kinase MNB
  • serine/threonine-specific protein kinase

Frequently Asked Questions

chromosomal microarray or targeted gene panel that includes DYRK1A is typically ordered. If a variant is found, a confirmatory Sanger sequencing test may be performed. Genetic counseling should accompany testing to explain inheritance and recurrence risk.
Children often show delayed speech and language skills, mild to moderate intellectual disability, and motor delays such as difficulty walking or clumsy gait. Early intervention with speech and occupational therapy can help maximize developmental potential.
Seizure types vary, but many patients benefit from antiepileptic drugs like levetiracetam or valproate. A neurologist will tailor medication based on seizure frequency, type, and side‑effect profile, and may use EEG monitoring to guide therapy.
Consistent routines, structured learning environments, and sensory‑friendly spaces can reduce anxiety and improve focus. Regular physical activity and a balanced diet support overall health. While these changes do not alter the underlying genetics, they can enhance daily functioning and quality of life.===
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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