Collectively , these results extend the pattern of TMPRSS6 mutations associated with IRIDA and functionally demonstrate that mutations affecting protease regions other than the catalytic domain may have a profound impact in the regulatory role of matriptase-2 during iron deficiency .
O O O O O O O O B-GeneOrGeneProduct O O O B-DiseaseOrPhenotypicFeature O O O O O O O O O O O O O O O O O O O O O O O B-GeneOrGeneProduct O B-DiseaseOrPhenotypicFeature I-DiseaseOrPhenotypicFeature O