SLC10A2

SLC10A2 is a gene that encodes the sodium-dependent bile acid transporter protein, also known as the apical sodium-bile acid transporter (ASBT), in humans. This protein is crucial for the reabsorption of bile acids from the intestine. The SLC10A2 gene is located on chromosome 13 in humans and plays a significant role in the enterohepatic circulation of bile acids.

Function

The protein encoded by SLC10A2 is involved in the active transport and reabsorption of bile acids in the ileum, the final section of the small intestine. Bile acids are critical for the digestion and absorption of fats and fat-soluble vitamins in the small intestine. The efficient reabsorption of bile acids via ASBT in the ileum conserves these molecules for recirculation to the liver, thus minimizing the need for de novo synthesis of bile acids from cholesterol.

Clinical Significance

Mutations in the SLC10A2 gene can lead to a condition known as primary bile acid malabsorption (PBAM), which is characterized by chronic diarrhea and malabsorption of fats. Patients with this condition have a reduced ability to reabsorb bile acids in the ileum, leading to an increased fecal loss of bile acids and subsequent diarrhea.

Genetic Regulation

The expression of SLC10A2 is regulated by various nuclear receptors, including the farnesoid X receptor (FXR), which plays a pivotal role in the regulation of bile acid levels in the liver and intestine. Activation of FXR in the ileum induces the expression of SLC10A2, thereby enhancing the reabsorption of bile acids.

Research

Research on SLC10A2 has focused on understanding its role in bile acid homeostasis and its implications in gastrointestinal diseases. Studies have also explored the potential of targeting ASBT with inhibitors as a therapeutic strategy for hypercholesterolemia and other metabolic disorders, by reducing the recirculation of bile acids and increasing their excretion.

See Also

• Bile acid
• Chromosome 13 (human)
• Farnesoid X receptor
• Small intestine