Gene: SLC5A1

Alternate names for this Gene: D22S675|NAGT|SGLT1

Gene Summary: This gene encodes a member of the sodium-dependent glucose transporter (SGLT) family. The encoded integral membrane protein is the primary mediator of dietary glucose and galactose uptake from the intestinal lumen. Mutations in this gene have been associated with glucose-galactose malabsorption. Multiple transcript variants encoding different isoforms have been found for this gene.

Gene is located in Chromosome: 22

Location in Chromosome : 22q12.3

Description of this Gene: solute carrier family 5 member 1

Type of Gene: protein-coding

rs121912668 in SLC5A1 gene and Congenital glucose-galactose malabsorption PMID 10036327 1999 Missense mutations in SGLT1 cause glucose-galactose malabsorption by trafficking defects.

PMID 8195156 1994 Structure of the human Na+/glucose cotransporter gene SGLT1.

PMID 2008213 1991 Glucose/galactose malabsorption caused by a defect in the Na+/glucose cotransporter.

PMID 11406349 2001 A missense mutation in the Na(+)/glucose cotransporter gene SGLT1 in a patient with congenital glucose-galactose malabsorption: normal trafficking but inactivation of the mutant protein.

PMID 10036327 1999 We suggest that the compound heterozygote missense mutations G318R and A468V lead to GGM in this patient by defective trafficking of mutant proteins from the endoplasmic reticulum to the plasma membrane.

rs17683011 in SLC5A1 gene and Glucagon-like Peptide-1 measurement PMID 29093273 2017 Genetic determinants of circulating GIP and GLP-1 concentrations.

rs17683011 in SLC5A1 gene and Glucose tolerance test PMID 29093273 2017 Genetic determinants of circulating GIP and GLP-1 concentrations.