EAAT1
EAAT1は周期性失調症6型(EA6)と関係している。EAAT1の発現は、変形性関節症と関係している可能性もある。
“Functional comparisons of three glutamate transporter subtypes cloned from human motor cortex”. The Journal of Neuroscience 14 (9): 5559–69. (September 1994). doi:10.1523/jneurosci.14-09-05559.1994. PMC 6577102. PMID 7521911. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6577102/.
“Prediction of the coding sequences of unidentified human genes. II. The coding sequences of 40 new genes (KIAA0041-KIAA0080) deduced by analysis of cDNA clones from human cell line KG-1”. DNA Research 1 (5): 223–9. (1995). doi:10.1093/dnares/1.5.223. PMID 7584044.
“Localization of the gene (SLC1A3) encoding human glutamate transporter (GluT-1) to 5p13 by fluorescence in situ hybridization”.