SLC13A5

SLC13A5 is a gene that encodes a protein known as the Sodium/Citrate cotransporter member 5. This protein is part of the SLC13 family of sodium-dependent transporters, which are responsible for the uptake of various substrates into cells. The SLC13A5 protein specifically transports citrate, a key intermediate in the citric acid cycle, into cells.

Function

The SLC13A5 gene provides instructions for making a protein that is found in the liver and brain. This protein, known as the Sodium/Citrate cotransporter member 5, transports citrate into cells. Citrate is a key intermediate in the citric acid cycle, which is a series of chemical reactions used by cells to generate energy and make fats, cholesterol, and proteins.

Clinical significance

Mutations in the SLC13A5 gene have been associated with a rare neurological disorder known as SLC13A5-deficiency. This condition is characterized by seizures beginning in infancy, developmental delay, and movement problems. The seizures are often resistant to treatment with anti-epileptic drugs.

See also

• SLC13 family
• Citric acid cycle
• Neurological disorder

External links

• GeneCards - SLC13A5
• NIH - SLC13A5