TMPRSS6

(redirected from matriptase-2)

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).
References in periodicals archive ?
Under low iron conditions, membrane-bound HJV is cleaved by matriptase-2, a transmembrane protease serine 6, encoded bythe transmembrane protease, serine 6 (TMPRSS6) [6] gene, expressed predominantly in the liver (48, 49).
Loss of matriptase-2 activity results in an inability to reduce hepcidin synthesis during iron deficiency (49).
To evaluate the clinical utility of the 3 hepcidin assays, we selected samples from 27 anemic patients with rheumatoid arthritis (RA), and 19 samples from patients with ferritin concentrations <60 jug/L, all of whom had laboratory results that excluded the presence of inflammation, HH, or matriptase-2 defects (24).