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SGLT1

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# SNPs0

Known also as SLC5A1, the SGLT1 gene, located on chromosome 22, encodes the sodium/glucose co-transporter (SGLT)-1 protein. This protein is a rate-limiting factor for the absorption of glucose and galactose in the small intestine.

Loss-of-function mutations of the SGLT1 gene result may result in impaired cellular glucose transport, leading to a rare, recessive condition known as glucose-galactose malabsorption (GGM).

In 2018, a group of researchers reported that a haplotype of three tightly linked mutations in the SGLT1 gene is linked to slower metabolism of sugar in the gut, giving the ~6% of people who carry it who lower risk of developling diabetes, obesity, and heart failure. They also conclude that people who eat a high-carbohydrate diet and have this haplotype will have a dietary advantage, since they will absorb less glucose than those without the mutation.[PMID 30286918OA-icon.png]

The three variants comprising the haplotype are Asn51Ser, Ala411Thr, and His615Gln, corresponding to rs17683011, rs17683430 and rs33954001.