Slc5a1, also known as SGLT1, encodes the apical sodium/glucose cotransporter SGLT1. It is a crucial mediator of epithelial glucose transport, accounting for most of the dietary glucose uptake in the intestine [2]. Mutations in Slc5a1 can cause congenital glucose-galactose malabsorption, a rare autosomal recessive disorder [1,3].

In the research on congenital glucose-galactose malabsorption, novel Slc5a1 missense variants were identified in Turkish and Saudi Arabian patients [1,3]. Stable expression in CaCo-2 cells of one variant (p.Ala92Val) showed it did not reach the plasma membrane but was retained in the endoplasmic reticulum, while p.Gly43Arg had processing and plasma membrane localization comparable to wild-type SGLT1 [1].

In summary, Slc5a1 is essential for dietary glucose uptake in the intestine. Studies on Slc5a1 mutations in patients with congenital glucose-galactose malabsorption help us understand its role in glucose absorption and the pathogenesis of this disorder.