| Scientific background: |
Solute carrier family 1 member 1, also called SLC1A1, is a protein that in humans is encoded by the SLC1A1 gene. By Southern analysis of a panel of human/rodent somatic cell hybrids and by fluorescence in situ hybridization (FISH), this gene is mapped to 9p24.2. This gene encodes a member of the high-affinity glutamate transporters that play an essential role in transporting glutamate across plasma membranes. In brain, these transporters are crucial in terminating the postsynaptic action of the neurotransmitter glutamate, and in maintaining extracellular glutamate concentrations below neurotoxic levels. This transporter also transports aspartate, and mutations in this gene are thought to cause dicarboxylicamino aciduria, also known as glutamate-aspartate transport defect. |
| References: |
1. Berman, A. E., Chan, W. Y., Brennan, A. M., Reyes, R. C., Adler, B. L., Suh, S. W., Kauppinen, T. M., Edling, Y., Swanson, R. A. N-acetylcysteine prevents loss of dopaminergic neurons in the EAAC1-/- mouse. Ann. Neurol. 69: 509-520, 2011.
2. Myles-Worsley, M., Tiobech, J., Browning, S. R., Korn, J., Goodman, S., Gentile, K., Melhem, N., Byerley, W., Faraone, S. V., Middleton, F. A. Deletion at the SLC1A1 glutamate transporter gene co-segregates with schizophrenia and bipolar schizoaffective disorder in a 5-generation family. Am. J. Med. Genet. 162B: 87-95, 2013.
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