SLC5A1 : solute carrier family 5 member 1

Description

The SLC5A1 gene, also known as the SGLT1 gene, encodes for a protein called the sodium-glucose cotransporter 1. This protein plays a crucial role in the absorption of glucose from the small intestine into the bloodstream. It functions by simultaneously transporting both glucose and sodium ions across the intestinal epithelial cells, creating a concentration gradient that drives glucose uptake. This process is essential for maintaining blood glucose levels and providing energy to the body.

Associated Diseases

• Glucose-galactose malabsorption (GGM): A rare genetic disorder characterized by severe diarrhea and dehydration due to impaired glucose and galactose absorption.
• Familial hypoglycemia: Inherited condition where the body cannot maintain normal blood sugar levels, potentially leading to seizures or coma.
• Sodium-glucose cotransporter 1 deficiency (SGLT1 deficiency): A rare disorder resulting in severe diarrhea and malnutrition due to impaired glucose absorption.

Did you know?

The SLC5A1 gene is highly conserved across different species, suggesting its critical role in glucose homeostasis.