SLC10A3
SLC10A3 Gene: A Vital Transporter for Nutrient Absorption
Description
The SLC10A3 gene (Solute Carrier Family 10 Member 3) encodes a protein called sodium-dependent bile acid transporter (SBAT). This protein is located on the surface of intestinal cells and plays a crucial role in the absorption of bile acids from the intestinal lumen into the bloodstream. Bile acids are synthesized from cholesterol in the liver and help in the digestion and absorption of fats.
Associated Diseases
Mutations in the SLC10A3 gene can lead to the following disorders:
- Progressive familial intrahepatic cholestasis type 3 (PFIC3): A liver disease characterized by impaired bile flow, which can manifest as jaundice, pruritus, and cirrhosis.
- Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD): A rare liver disease in infants that affects mitochondrial function and bile acid transport.
Did you Know ?
Mutations in the SLC10A3 gene are estimated to affect approximately 1 in every 100,000 newborns.
