SLC13A5

SLC13A5 is a tricarboxylate plasma transporter with a preference for citrate. ==Clinical significance==

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. Mutations in SLC13A5 cause autosomal recessive epileptic encephalopathy with seizure onset in the first days of life. and obesity protection in laboratory mice. 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. ==Small molecule inhibitors==

There are four small-molecule inhibitors to SLC13A5 that have been reported from Pfizer and a derivative from China Pharmaceutical University, Boehringer Ingelheim and the group of Elisabeth P. Carpenter from the Centre for Medicines Discovery, and Eternygen. The Pfizer molecule is an orthosteric inhibitor that locks the protein in an inward-facing state of the reaction cycle, while the mechanism of action for other inhibitors remains unknown. == References ==