TMPRSS6, transmembrane serine protease 6, 164656

N. diseases: 113; N. variants: 86
Disease: Juvenile hemochromatosis ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0268060
Disease: Juvenile hemochromatosis
Juvenile hemochromatosis 		0.010 Biomarker disease BEFREE The matriptase (MT)-2 protein (encoded by the TMPRSS6 gene) regulates hepcidin expression by cleaving hemojuvelin [HJV/hemochromatosis type 2 (HFE2)], a bone morphogenetic protein (BMP) coreceptor in the hepcidin regulatory pathway. 25588876 2015