Gene: SLC10A2

Alternate names for this Gene: ASBT|IBAT|ISBT|NTCP2|PBAM

Gene Summary: This gene encodes a sodium/bile acid cotransporter. This transporter is the primary mechanism for uptake of intestinal bile acids by apical cells in the distal ileum. Bile acids are the catabolic product of cholesterol metabolism, so this protein is also critical for cholesterol homeostasis. Mutations in this gene cause primary bile acid malabsorption (PBAM); muatations in this gene may also be associated with other diseases of the liver and intestines, such as familial hypertriglyceridemia (FHTG).

Gene is located in Chromosome: 13

Location in Chromosome : 13q33.1

Description of this Gene: solute carrier family 10 member 2

Type of Gene: protein-coding

rs121917848 in SLC10A2 gene and Bile Acid Malabsorption, Primary PMID 9109432 1997 Primary bile acid malabsorption caused by mutations in the ileal sodium-dependent bile acid transporter gene (SLC10A2).

rs56398830 in SLC10A2 gene and Biliary calculi PMID 30504769 2018 Genome-wide association meta-analysis yields 20 loci associated with gallstone disease.