In 2014, by means of exome sequencing it was determined that a genetic mutation of the gene is the cause of a rare SLC13A5 Epilepsy.[6] Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life.[6] Those afflicted suffer from seizures, global developmental delay, movement disorder and hypotonia.
Reduced expression of homologous genes is associated with longer lifespan in Drosophila melanogaster and Caenorhabditis elegans,[7][8] and obesity protection in laboratory mice.[9] Increased expression is associated with type 2 diabetes and non-alcoholic fatty liver disease. A sugary diet upregulates the expression of the gene, and so does Interleukin 6 signaling.[10]
