SLC10A2 gene

solute carrier family 10 member 2

The information on this page was automatically extracted from online scientific databases.

From NCBI 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]

From UniProt:

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.

From NCBI Gene:

  • Bile acid malabsorption, primary

From UniProt:

Primary bile acid malabsorption (PBAM): An intestinal disorder associated with chronic watery diarrhea, excess fecal bile acids, steatorrhea and interruption of the enterohepatic circulation of bile acids. [MIM:613291]

Cytogenetic Location: 13q33.1, which is the long (q) arm of chromosome 13 at position 33.1

Molecular Location: base pairs 103,043,998 to 103,066,846 on chromosome 13 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 13q33.1, which is the long (q) arm of chromosome 13 at position 33.1
  • ASBT
  • IBAT
  • ISBT
  • NTCP2
  • PBAM