Entrez gene ID | | 570 |
Official gene symbol | | BAAT |
Full name | | bile acid CoA: amino acid N-acyltransferase (glycine N-choloyltransferase) |
Aliases | | ,BACAT,BAT,FLJ20300,MGC104432, |
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. [provided by RefSeq] |
Location | | Chromosome: 9 Locus: 9q22.3 |
Gene position | | 104147287 - 104122699 Map Viewer |
Gene orientation | | minus |
Gene size | | 24589 bp |
Gene sequence |
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OMIM ID | | 602938 |