SLC6A1


Description

The SLC6A1 (solute carrier family 6 member 1) is a protein-coding gene located on chromosome 3.

SLC6A1 encodes GABA transporter 1 (GAT1), a protein that belongs to the solute carrier 6 (SLC6) family of transporters. GAT1 facilitates the movement of gamma-aminobutyric acid (GABA) from the extracellular space into cells within brain tissue and the central nervous system. GAT1 is a 599 amino acid protein with 12 transmembrane domains, an intracellular N-terminus, and C-terminus. Its primary function is to remove GABA from the synaptic cleft, transporting it to presynaptic neurons (for recycling) and astrocytes (for breakdown). This transport process relies on the energy from a sodium gradient and the presence of a chloride gradient. The stoichiometry for GABA transport is 2 Na+: 1 Cl−: 1 GABA. GABA, the main inhibitory neurotransmitter in the cerebral cortex, is synthesized from glutamate by glutamate decarboxylase (GAD) with the assistance of vitamin B6. After synthesis, GABA is packaged and released into the post-synaptic terminals of neurons. GABA can also be used to form succinate, a molecule involved in the citric acid cycle.

SLC6A1 mediates the transport of gamma-aminobutyric acid (GABA) along with sodium and chloride ions, primarily responsible for reuptake of GABA from the synaptic cleft. This transport can also occur in reverse, leading to GABA release. The direction and magnitude of GABA transport are influenced by membrane potential and the concentrations of sodium, chloride, and GABA inside and outside the cell. SLC6A1 can also transport hypotaurine, albeit at a lower rate compared to GABA.

SLC6A1 is also known as GABATHG, GABATR, GAT1, MAE, hGAT-1.

Associated Diseases


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