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SLC1A3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC1A3 gene

The SLC1A3 gene provides instructions for the EAAT1 protein, which is essential for clearing glutamate from the brain to maintain healthy nerve cell communication.

Normal Function

The SLC1A3 gene provides instructions for making a protein called excitatory amino acid transporter 1 (EAAT1). The EAAT1 protein is primarily found in nervous system cells called glia (or glial cells), which protect and maintain nerve cells (neurons). While the protein is found in cells throughout the brain, it is most abundant in the brainstem and the cerebellum.

The EAAT1 protein transports a molecule called glutamate in the brain. Glutamate is a neurotransmitter that allows neurons to communicate. After neurotransmitters have relayed signals, they must be cleared from the spaces between neurons. EAAT1 is one of several glutamate transporters that clear excess glutamate from these spaces. This process is carefully regulated to ensure accurate signal transmission and to prevent the buildup of glutamate, which would be toxic to neurons.

The EAAT1 protein also transports chloride ions in and out of cells. This function may help regulate the size (volume) of glia by playing a role in their intake and release of water, and may help maintain a normal balance of charged molecules (ions) in cells.

Health Conditions Related to Genetic Changes

Episodic ataxia

Several variants in the SLC1A3 gene have been found to cause episodic ataxia type 6 (EA6), a nervous system disorder involving episodes of poor coordination and balance (ataxia).

The variants that cause episodic ataxia change single amino acids in the EAAT1 protein. Research shows that the altered EAAT1 proteins allow more chloride ions to flow in or out of cells than usual. Researchers suspect that glia with these altered channels cannot maintain the correct volume or ion balance, causing them to shrink and die. The loss of glia is thought to impair the clearance of glutamate, leading to excess glutamate that may overexcite neurons and disrupt communication, resulting in the episodes of uncoordinated movement.

Other Names for This Gene

  • EA6
  • EAA1_HUMAN
  • EAAT-1
  • EAAT1
  • Excitatory amino acid transporter 1
  • FLJ25094
  • GLAST
  • GLAST1
  • Glial high affinity glutamate transporter
  • Glutamate/aspartate transporter, high affinity, sodium-dependent
  • Sodium-dependent glutamate/aspartate transporter 1
  • solute carrier family 1 (glial high affinity glutamate transporter), member 3
  • Solute carrier family 1 member 3

Frequently Asked Questions

Patients with EA6 often report that high‑carbohydrate meals, caffeine, alcohol, lack of sleep, and emotional stress can precipitate attacks. Maintaining a regular sleep schedule, staying well‑hydrated, limiting caffeine and alcohol, and managing stress through relaxation techniques or therapy can help lower attack frequency. Some individuals also benefit from a low‑glutamate diet, though evidence is anecdotal.
EA6 is inherited in an autosomal‑dominant manner. A single pathogenic variant is sufficient to cause disease, and it is usually de novo (new) in the affected individual. However, if a parent carries the same variant, each child has a 50 % chance of inheriting it. Parental testing is recommended to determine whether the variant is inherited or de novo, which informs recurrence risk for future pregnancies.
These intermittent symptoms are characteristic of episodic ataxia type 6 (EA6), which is caused by missense variants in the SLC1A3 gene encoding the EAAT1 glutamate transporter. EA6 typically presents with brief attacks of ataxia, vertigo, and sometimes visual disturbances, often triggered by stress, fatigue, or certain foods. Genetic testing can confirm the diagnosis.
First‑line therapy usually involves acetazolamide, a carbonic anhydrase inhibitor, which has been shown to reduce attack frequency in many EA6 patients. If acetazolamide is ineffective or poorly tolerated, other options include 4‑aminopyridine or carbamazepine. Treatment should be individualized and monitored by a neurologist familiar with episodic ataxias.
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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