TMPRSS6

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TMPRSS6

A gene on chromosome 22q12.3 that encodes a liver-specific serine protease which hydrolyses various proteins, including type-I collagen, fibronectin, fibrinogen and, with lesser efficiency, urokinase-type plasminogen. It may play a role in matrix remodelling in the liver and is required to sense iron deficiency. Overexpression of TMPRSS6 suppresses HAMP promoter activation. TMPRSS6 is also the former name for what is now designated TMPRSS13.

Molecular pathology
Defects in TMPRSS6 cause iron-refractory iron deficiency anaemia (IRIDA).