SLC5A1
SLC5A1 is a gene that encodes a protein known as the sodium/glucose cotransporter 1 (SGLT1). This protein plays a crucial role in the absorption of glucose and galactose in the small intestine and renal tubules. Mutations in the SLC5A1 gene can lead to glucose-galactose malabsorption, a rare genetic disorder.
Function[edit | edit source]
The SGLT1 protein is a member of the solute carrier family 5 (SLC5). It is an integral membrane protein that transports glucose and galactose into cells against a concentration gradient. This process is driven by the sodium electrochemical gradient established by the Na+/K+ ATPase.
Clinical significance[edit | edit source]
Mutations in the SLC5A1 gene can cause glucose-galactose malabsorption (GGM), a rare autosomal recessive disorder. Patients with GGM cannot absorb glucose and galactose from their diet, leading to severe diarrhea and dehydration. Treatment involves a glucose- and galactose-free diet.
See also[edit | edit source]
References[edit | edit source]
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