SLC5A7
Description
The SLC5A7 gene, provides instructions for making a protein called the sodium-dependent glucose/galactose transporter 1 (SGLT1). This protein plays a crucial role in absorbing glucose and galactose, two simple sugars, from the small intestine into the bloodstream. SGLT1 is primarily expressed in the small intestine, but also found in the kidneys and other tissues. Its function is critical for maintaining blood sugar levels and providing the body with energy.
Associated Diseases
- Glucose-galactose malabsorption (GGM): A rare genetic disorder characterized by severe diarrhea, dehydration, and failure to thrive due to impaired glucose and galactose absorption.
- Familial hypercholesterolemia (FH): A genetic condition where the body cannot properly remove low-density lipoprotein (LDL) cholesterol from the blood, increasing the risk of heart disease. Some studies suggest a link between SLC5A7 and FH.
- Sodium-glucose cotransporter 2 (SGLT2) inhibitors: A class of drugs used to treat type 2 diabetes by blocking the reabsorption of glucose in the kidneys, increasing its excretion. Understanding SGLT1 function is vital for developing effective SGLT2 inhibitors.
- Drug-induced diarrhea: Certain medications can cause diarrhea by interfering with the function of SGLT1.
- Other potential roles in cancer and neurodegenerative diseases are under investigation.
Did you know?
Mutations in the SLC5A7 gene can lead to glucose-galactose malabsorption, a condition where individuals cannot absorb these sugars properly, resulting in severe diarrhea and malnutrition.
