SPINT2 and congenital diarrhea 5 with tufting enteropathy: Furthermore, unregulated matriptase activity leading to increased turnover of the epithelial junctional proteins EpCAM and claudin-7 has recently been implicated in the etiology of intestinal failure in a subset of congenital tufting enteropathy (CTE) patients carrying mutation in the SPINT2 gene encoding HAI-2 [37].