Aliases for SLC10A2 Gene
External Ids for SLC10A2 Gene
Previous HGNC Symbols for SLC10A2 Gene
Previous GeneCards Identifiers for SLC10A2 Gene
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]
GeneCards Summary for SLC10A2 Gene
SLC10A2 (Solute Carrier Family 10 Member 2) is a Protein Coding gene. Diseases associated with SLC10A2 include Bile Acid Malabsorption, Primary and Steatorrhea. Among its related pathways are Metabolism and Synthesis of bile acids and bile salts. GO annotations related to this gene include bile acid:sodium symporter activity. An important paralog of this gene is SLC10A6.
UniProtKB/Swiss-Prot for SLC10A2 Gene
Plays a critical role in the sodium-dependent reabsorption of bile acids from the lumen of the small intestine. Plays a key role in cholesterol metabolism.