Full name: solute carrier family 10 member 2

Gene type: protein coding

RefSeq status: REVIEWED

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

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). [provided by RefSeq, Mar 2010]

Expression: Biased expression in small intestine (RPKM 25.8), duodenum (RPKM 11.2) and 1 other tissue

Gene size: 22420bp

Exon count: 6