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SLC6A3 gene
Reviewed by Medicinsk Expert•Last updated: 2026-10-22•Gene

SLC6A3 gene

The SLC6A3 gene encodes the dopamine transporter, a protein that regulates dopamine signaling in the brain by recycling this neurotransmitter.

Normal Function

The SLC6A3 gene provides instructions for making a protein called the dopamine transporter or DAT. This protein is embedded in the membrane of certain nerve cells (neurons) in the brain, where it transports a molecule called dopamine into the cell. Dopamine is a chemical messenger (neurotransmitter) that relays signals from one neuron to another. Dopamine has many important functions, including playing complex roles in thought (cognition), motivation, behavior, and control of movement.

To transmit signals, dopamine is released into the space between neurons (the synaptic cleft), where it attaches (binds) to receptors on the surface of neighboring neurons. The dopamine transporter brings dopamine from the synaptic cleft back into neurons for reuse. The activity of the transporter determines how much dopamine is present in the synaptic cleft and for how long. This activity makes the transporter a major controller of dopamine signaling in the brain.

Health Conditions Related to Genetic Changes

Dopamine transporter deficiency syndrome

At least 19 mutations in the SLC6A3 gene have been identified in people with dopamine transporter deficiency syndrome, a rare movement disorder that worsens over time. Its signs and symptoms usually begin in infancy but can appear in childhood or later.

  • Some mutations change single amino acids in the dopamine transporter protein.
  • Others lead to the production of an abnormally short protein or prevent cells from producing any functional protein.
  • All of these mutations impair the function of the dopamine transporter.

Because the impaired transporter cannot carry dopamine out of the synaptic cleft and back into neurons, dopamine builds up in the spaces around neurons. The excess dopamine alters signaling between neurons and may suppress (inhibit) pathways that normally trigger the production of more dopamine. Studies suggest that the age at which signs and symptoms appear is related to how severely the function of the dopamine transporter is affected; those with less than 5 percent of normal activity typically develop problems in infancy.

Alcohol use disorder

MedlinePlus Genetics provides information about Alcohol use disorder.

Other disorders

Variations (polymorphisms) in the SLC6A3 gene have been studied as possible risk factors for attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD). Changes in dopamine signaling appear to play an important role in both conditions, though it is unclear how specific variations in the SLC6A3 gene are involved.

Other Names for This Gene

  • DA transporter
  • DAT
  • DAT1
  • dopamine transporter 1
  • PKDYS
  • sodium-dependent dopamine transporter
  • solute carrier family 6 (neurotransmitter transporter), member 3
  • solute carrier family 6 (neurotransmitter transporter, dopamine), member 3

Frequently Asked Questions

Infants with dopamine transporter deficiency syndrome (DTDS) often present with severe hypotonia (floppiness), delayed motor milestones, and early-onset dystonia or choreoathetosis (involuntary movements). A key distinguishing feature is that while motor symptoms are prominent, cognitive development is often relatively preserved compared to the severity of the movement issues. Diagnosis is typically confirmed through genetic testing for SLC6A3 mutations or via a dopamine transporter scan (DAT-SPECT), which shows significantly reduced or absent dopamine transporter binding in the striatum, differentiating it from other dystonias where the scan may be normal.
There is currently no cure for DTDS, so treatment is symptomatic and focuses on managing movement disorders and associated complications. Medications such as anticholinergics (e.g., trihexyphenidyl) or dopamine receptor blockers may be used to reduce dystonia and chorea, though responses vary among patients. Physical therapy, occupational therapy, and speech therapy are critical for maintaining mobility, preventing contractures, and addressing communication difficulties. Some patients may also require medications to manage sleep disturbances or behavioral issues that can accompany the condition.
DTDS is an autosomal recessive disorder, meaning an individual must inherit two mutated copies of the SLC6A3 gene, one from each parent, to develop the condition. Parents of an affected child are typically asymptomatic carriers. If a couple has one child with DTDS, there is a 25% chance with each subsequent pregnancy that the child will be affected, a 50% chance the child will be a carrier, and a 25% chance the child will be unaffected and not a carrier. Genetic counseling and prenatal or preimplantation genetic testing are available options for families planning additional children.
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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