SLC10A2

Chr 13AR

solute carrier family 10 member 2

Also known as: ASBT, IBAT, ISBT, NTCP2, PBAM, PBAM1

NCBI Gene: 6555 ENSG00000125255 UniProt: Q12908 OMIM: 601295

This protein is a sodium/bile acid cotransporter that mediates reabsorption of bile acids in the distal ileum and renal proximal tubules, playing a critical role in enterohepatic circulation and cholesterol homeostasis. Mutations cause primary bile acid malabsorption, an autosomal recessive disorder affecting the gastrointestinal system. The gene shows high tolerance to loss-of-function variants (LOEUF 1.944), consistent with the recessive inheritance pattern.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

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). [provided by RefSeq, Mar 2010]

OMIM ResearchGenerating clinical summary…