Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.

@article{Holzinger2002MutationsIT,
  title={Mutations in the proenteropeptidase gene are the molecular cause of congenital enteropeptidase deficiency.},
  author={Andreas Holzinger and Esther M Maier and Cornelius B{\"u}ck and Peter U. Mayerhofer and Matthias Kappler and James C. Haworth and Stanley P Moroz and H. -B. Hadorn and J Evan Sadler and A. A. Roscher},
  journal={American journal of human genetics},
  year={2002},
  volume={70 1},
  pages={
          20-5
        }
}
Enteropeptidase (enterokinase [E.C.3.4.21.9]) is a serine protease of the intestinal brush border in the proximal small intestine. It activates the pancreatic proenzyme trypsinogen, which, in turn, releases active digestive enzymes from their inactive pancreatic precursors. Congenital enteropeptidase deficiency is a rare recessively inherited disorder leading, in affected infants, to severe failure to thrive. The genomic structure of the proenteropeptidase gene (25 exons, total gene size 88 kb… CONTINUE READING

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Die Physiologie des Darmsaftes ( in “ Ver - dauung ” chap )

  • A Walther
  • 1900
Highly Influential
1 Excerpt