SLC6A1 gene

solute carrier family 6 member 1

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

The protein encoded by this gene is a gamma-aminobutyric acid (GABA) transporter that localizes to the plasma membrane. The encoded protein removes GABA from the synaptic cleft, restoring it to presynaptic terminals. [provided by RefSeq, Jan 2017]

From UniProt:

Terminates the action of GABA by its high affinity sodium-dependent reuptake into presynaptic terminals.

From NCBI Gene:

  • Myoclonic-atonic epilepsy

From UniProt:

Myoclonic-atonic epilepsy (MAE): A form of epilepsy characterized by myoclonic-atonic and absence seizures, appearing in early childhood. Patients have delayed development before the onset of seizures and show varying degrees of intellectual disability following seizure onset. [MIM:616421]

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3

Molecular Location: base pairs 10,992,718 to 11,039,249 on chromosome 3 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 3p25.3, which is the short (p) arm of chromosome 3 at position 25.3
  • GABATHG
  • GABATR
  • GAT1
  • MAE