DescriptionThe 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.
|Immunocytochemistry, Immunofluorescence, Immunohistochemistry (Paraffin), Western Blot|
|PBS with 50% glycerol and 0.02% sodium azide; pH 7.3|
|Antigen Affinity Chromatography|
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