SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation
Huang N, Wang Q, Bernard R, Chen C, Hu J, Wang J, Chan K, Johnson M, Lin C. SPINT2 mutations in the Kunitz domain 2 found in SCSD patients inactivate HAI-2 as prostasin inhibitor via abnormal protein folding and N-glycosylation. Human Molecular Genetics 2024, 33: 752-767. PMID: 38271183, PMCID: PMC11031362, DOI: 10.1093/hmg/ddae005.Peer-Reviewed Original ResearchSubcellular targeting signalsAbnormal protein foldingHAI-2Protein foldingN-glycosylationMissense mutationsComplex-type N-glycansDomain 2Glycosylated mature formSyndromic congenital sodium diarrheaTarget signalKunitz domain 1Disulfide-linked oligomersDoxycycline-inducible expressionN-glycosylation mutationsAnti-protease activityN-glycansGlycosylation defectsKunitz domainProtease inhibitory activityHuman colorectal adenocarcinoma cellsGlycosylation statusMature formDomain 1Mutants