Scientists have comprehensively studied the function and structure of the citrate transporter encoded by the gene SLC13A5.
Citrate, the negatively charged ion of citric acid, is a key component in the metabolism of every cell. In neurons, citrate plays an especially important role; as a so-called "neuromodulator," it influences neuronal activity. Neurons express high levels of the citrate transporter to facilitate citrate uptake. When this transporter is not fully functional due to genetic mutations, it can lead to SLC13A5 Citrate Transporter Disorder, a severe form of epilepsy associated with impaired brain development (also referred to as developmental epileptic encephalopathy). However, until now, little was known about which mutations impact the function of the transporter and how they influence disease progression.
