Dicarboxylic Aminoaciduria:
The protein that is encoded by the SLC1A1gene (EAAT3) is expressed in the kidneys where it is responsible for the reabsorption of aspartate and glutamate reabsorption from the glomerular filtrate. Mutations in the SLC1A1gene, specifically in the gene regions that are important for binding and transport of glutamate and aspartate, result in abolished expression of EAAT3 in the kidney in dicarboxylic aminoaciduria. This leads to elevated glutamate and aspartate levels in the urine. Studies suggest that both copies of the of the SLC1A1gene need to be disrupted for symptom manifestation.
SLC1A1