Scientific background: |
SLC6A1(Solute Carrier family 6 (Neurotransmitter transporter, Gaba), Member 1), also called GABATR or GABATHG, encodes a gamma-aminobutyric acid (GABA) transporter, which removes GABA from the synaptic cleft. The SLC6A1 gene contains 15 exons and is approximately 25 kb by Lam et al. And it is mapped on 3p25.3. Zomot et al. (2007) showed that introduction of a negatively charged amino acid at or near 1 of the 2 putative sodium binding sites of the GABA transporter GAT1 from rat brain (also calledSLC6A1) renders both net flux and exchange of GABA largely chloride independent. By in vitro functional expression studies, the SLC6A1 insertion promoter (2 copies of the sequence) had significantly greater promoter activity than the noninsertion (1 copy of the sequence) promoter, which in turn had greater activity than a promoterless control. Studies of postmortem hippocampus from 69 African American individuals showed that the SLC6A1promoter genotype predicted SLC6A1 RNA expression and that overall SLC6A1 expression decreased with age. |
References: |
1.Cope, D. W., Di Giovanni, G., Fyson, S. J., Orban, G., Errington, A. C., Lorincz, M. L., Gould, T. M., Carter, D. A., Crunelli, V. Enhanced tonic GABA-A inhibition in typical absence epilepsy. Nature Med. 15: 1392-1398, 2009.
2.Huang, F., Shi, L. J., Heng, H. H. Q., Fei, J., Guo, L.-H. Assignment of the human GABA transporter gene (GABATHG) locus to chromosome 3p24-p25. Genomics 29: 302-304, 1995.
3.Zomot, E., Bendahan, A., Quick, M., Zhao, Y., Javitch, J. A., Kanner, B. I. Mechanism of chloride interaction with neurotransmitter:sodium symporters. Nature 449: 726-730, 2007.
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