SLC10A2

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]

Description

solute carrier family 10 (sodium/bile acid cotransporter family), member 2

Protein family

Mapped to UniProt SWISS-PROT, Potential transmembrane proteins, Transporters

Chromosome

13:q33.1 (103696350 - 103719196)

Ensembl ID

ENSG00000125255  (ver. 71.37)

Orthologs

Mouse Slc10a2: ENSMUSG00000023073

Human splice variants
Mouse splice variants