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SYNGAP1 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SYNGAP1 gene

The SYNGAP1 gene is critical for brain development, providing instructions for a protein that regulates communication between nerve cells and supports learning and memory.

Normal Function

The SYNGAP1 gene provides instructions for making a protein called SynGAP, which plays an important role in nerve cells in the brain. SynGAP is found at the junctions between nerve cells (synapses) where cell-to-cell communication takes place. Synapses are able to change and adapt over time, rewiring brain circuits, which is critical for learning and memory. SynGAP helps regulate these synaptic adaptations and promotes proper brain wiring, particularly during a critical period of early brain development.

Health Conditions Related to Genetic Changes

SYNGAP1-related intellectual disability

At least 40 mutations in the SYNGAP1 gene have been found to cause SYNGAP1-related intellectual disability. In addition to mild-to-moderate intellectual disability, this condition commonly features other neurological problems, including recurrent seizures (epilepsy) and autism spectrum disorder.

  • Gene mutations involved in this condition prevent the production of functional SynGAP protein from one copy of the gene, reducing the protein's activity.
  • A reduction of SynGAP activity can push synapses to develop (mature) too early.
  • These changes disrupt the synaptic adaptations in the brain that underlie learning and memory, leading to cognitive impairment and other neurological problems.

Autism spectrum disorder

At least five SYNGAP1 gene mutations have been identified in people with autism spectrum disorder (ASD), a condition characterized by impaired social skills, communication problems, and repetitive behaviors. These mutations result in a SynGAP protein with impaired function or prevent the production of the protein. It is not currently known why some individuals with these mutations develop ASD while others exhibit the additional features of SYNGAP1-related intellectual disability.

Other Names for This Gene

  • KIAA1938
  • MRD5
  • neuronal RasGAP
  • Ras GTPase-activating protein SynGAP
  • ras/Rap GTPase-activating protein SynGAP
  • RASA5
  • synaptic Ras GTPase activating protein 1 homolog
  • synaptic Ras GTPase activating protein, 135kDa
  • synaptic Ras GTPase-activating protein 1
  • SYNGAP

Frequently Asked Questions

Diagnosis typically involves genetic testing to identify mutations in the SYNGAP1 gene. This is often pursued after a child presents with developmental delays, intellectual disability, epilepsy, or autism spectrum disorder. Genetic sequencing can confirm the presence of a SYNGAP1 mutation.
Management is multidisciplinary and focuses on symptom management and developmental support. This can include antiepileptic medications for seizures, behavioral therapies for autism spectrum disorder, physical therapy for motor delays, occupational therapy for daily living skills, and speech therapy for communication challenges. Early intervention is crucial to maximize developmental potential.
Early signs can include developmental delays, particularly in cognitive and motor skills. As children grow, mild-to-moderate intellectual disability becomes apparent, often accompanied by recurrent seizures (epilepsy) and features of autism spectrum disorder, such as impaired social skills and communication challenges.
SYNGAP1-related intellectual disability is often caused by a new (de novo) mutation, meaning it's not inherited from the parents. However, in some cases, a parent might be a mosaic carrier. Genetic counseling is highly recommended to determine the specific inheritance pattern in the family, assess recurrence risk for future pregnancies, and discuss testing options for other family members.
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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