SLC46A1 : solute carrier family 46 member 1
Description
The SLC46A1 gene, also known as the ‘Sodium-Coupled Citrate Transporter 1‘ gene, plays a crucial role in cellular metabolism. It encodes a protein that facilitates the transport of citrate, a vital intermediate in the citric acid cycle, across cell membranes. This process is essential for various metabolic functions, including energy production, lipid synthesis, and the regulation of cellular pH. The SLC46A1 gene is expressed in a wide range of tissues, including the liver, kidneys, intestines, and brain, highlighting its widespread importance in cellular function.
Associated Diseases
Did you know?
Mutations in the SLC46A1 gene can lead to citrin deficiency, a rare metabolic disorder characterized by hyperammonemia and neurological problems. This highlights the critical role of the SLC46A1 gene in maintaining proper metabolic balance.
