Understanding SLC6A1
The SLC6A1 gene, located on chromosome 3, encodes a protein called GAT-1, one of the main transporters of GABA (gamma-aminobutyric acid) in the brain.
GABA is the brain’s main inhibitory neurotransmitter: a chemical messenger that generally reduces the likelihood of nerve cells generating electrical signals. It helps keep brain activity balanced.
When released from a nerve ending, GABA crosses the synaptic cleft—the small gap between communicating nerve cells—and binds to receptors. These receptors allow GABA to influence the activity of the receiving cell.
GAT-1 takes GABA back into nerve cells and astrocytes, a type of supporting cell in the brain. This process, called reuptake, helps control the amount of GABA outside cells and the duration of its effects.
Disease-causing variants in SLC6A1 can reduce the amount of functional GAT-1 or impair its ability to transport GABA. This disrupts GABA signalling and can affect brain development and function.
SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD) can involve epilepsy, developmental delay and intellectual disability, behavioural challenges, sleep disturbances, autism spectrum disorder and other symptoms. Symptoms and their severity vary from person to person.
Watch the following video, commissioned by SLC6A1 CONNECT, to better understand SLC6A1-related disorders.
Family Guide to SLC6A1-Related Neurodevelopmental Disorder
This comprehensive guide, developed by Unique – The Rare Chromosome Disorder Support Group, provides reliable, up-to-date information for families and healthcare professionals about SLC6A1-related neurodevelopmental disorder (SLC6A1-NDD).
It explains the condition, its clinical features, diagnosis, management, and available support, helping families better understand and navigate life with SLC6A1-NDD.