SLC5A8
The SLC5A8 Gene: A Gateway to Understanding Metabolic Disorders
Description
The SLC5A8 gene, located on chromosome 16q13, encodes a membrane protein called sodium-glucose cotransporter 1 (SGLT1). This protein plays a crucial role in the absorption and transport of glucose from the small intestine into the bloodstream. SGLT1 is the primary glucose transporter expressed in the small intestine, responsible for approximately 90% of glucose absorption.
Associated Diseases
Mutations in the SLC5A8 gene have been linked to a number of metabolic disorders, including:
- Glucose-galactose malabsorption (GGM): A rare inherited condition characterized by the inability to absorb glucose and galactose from the diet.
- Diarrhea type 5 (D5): A chronic diarrhea characterized by watery stools and electrolyte imbalances.
- Type 2 diabetes mellitus (T2DM): A common metabolic disorder characterized by elevated blood sugar levels.
Did you Know ?
- Mutations in the SLC5A8 gene are responsible for approximately 10% of cases of glucose-galactose malabsorption.
