Gene: BAAT

Alternate names for this Gene: BACAT|BAT

Gene Summary: The protein encoded by this gene is a liver enzyme that catalyzes the transfer of C24 bile acids from the acyl-CoA thioester to either glycine or taurine, the second step in the formation of bile acid-amino acid conjugates. The bile acid conjugates then act as a detergent in the gastrointestinal tract, which enhances lipid and fat-soluble vitamin absorption. Defects in this gene are a cause of familial hypercholanemia (FHCA). Two transcript variants encoding the same protein have been found for this gene.

Gene is located in Chromosome: 9

Location in Chromosome : 9q31.1

Description of this Gene: bile acid-CoA:amino acid N-acyltransferase

Type of Gene: protein-coding

rs28937579 in BAAT gene and Hypercholanemia, Familial PMID 12704386 2003 Complex inheritance of familial hypercholanemia with associated mutations in TJP2 and BAAT.