Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity.

@article{Wong1995IdentificationOA,
  title={Identification of a mutation in the ileal sodium-dependent bile acid transporter gene that abolishes transport activity.},
  author={Melissa H Wong and Peter Oelkers and Paul A. Dawson},
  journal={The Journal of biological chemistry},
  year={1995},
  volume={270 45},
  pages={27228-34}
}
The ileal Na+/bile acid cotransporter plays a critical role in the reabsorption of bile acids from the small intestine. In the course of cloning and characterizing the human ileal Na+/bile acid cotransporter cDNA, a dysfunctional isoform was identified in a patient diagnosed with Crohn's disease. Expression studies using hamster-human ileal Na+/bile acid cotransporter cDNA chimeras narrowed the location of the defect to the carboxyl-terminal 94 amino acids. Comparison of the sequence of the… CONTINUE READING