TMPRSS6 : transmembrane serine protease 6


Description

The TMPRSS6 (transmembrane serine protease 6) is a protein-coding gene located on chromosome 22.

The TMPRSS6 gene provides instructions for making a protein called matriptase-2. This protein is part of a signaling pathway that controls the levels of another protein called hepcidin, which is a key regulator of iron balance in the body. When blood iron levels are low, this signaling pathway reduces hepcidin production, allowing more iron from the diet to be absorbed through the intestines and transported out of storage sites (particularly in the liver and spleen) into the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen.

TMPRSS6 is a membrane-bound serine protease that plays a role in iron homeostasis by cleaving cell surface HJV, a regulator of the expression of the iron absorption-regulating hormone hepcidin/HAMP. This cleavage regulates the production of hepcidin, which in turn controls iron levels in the body.

TMPRSS6 is also known as IRIDA, MT2.

Associated Diseases


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