TMPRSS6
TMPRSS6 encodes matriptase-2, a liver-expressed type II transmembrane serine protease that cleaves hemojuvelin on the surface of hepatocytes, thereby suppressing BMP/SMAD signaling and reducing production of the iron-regulatory hormone hepcidin. Because lower hepcidin allows more dietary iron absorption and release from stores, common TMPRSS6 variants (such as rs855791) shift circulating iron levels within the normal range and are distinct from monogenic hemochromatosis.
Traits TMPRSS6 shapes
Markers (rsIDs)
Reference databases
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