SLC13A5
SLC13A5 is a gene that encodes a protein responsible for transporting certain molecules across cell membranes. Specifically, it facilitates the uptake of sodium and citrate, which are important for various cellular functions, including energy production and metabolism. This gene plays a crucial role in maintaining the balance of these substances in the body.
Mutations in the SLC13A5 gene can lead to health issues, such as epileptic encephalopathy, a severe form of epilepsy that typically begins in infancy. Understanding the function of this gene helps researchers develop potential treatments and interventions for related disorders, highlighting its significance in human health.