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Transmembrane Serine Protease 6

Molecular classification
Enzyme, Serine Protease, Type II Transmembrane Protein, S1 chymotrypsin-like serine proteases
01

Overview

Transmembrane Serine Protease 6 (TMPRSS6), also known as matriptase-2, is a type II transmembrane serine protease that plays a crucial role in regulating iron homeostasis. It primarily functions by suppressing hepcidin production when blood iron levels are low, thereby increasing dietary iron absorption and mobilization from storage sites. Mutations in TMPRSS6 are associated with iron-refractory iron deficiency anemia (IRIDA), a condition characterized by chronic anemia due to unregulated high levels of hepcidin.

Other names
Matriptase-2Transmembrane protease serine 6
02

Mechanism of action

Inhibition of TMPRSS6 activity to increase hepcidin production (not clinically available)

03

Biological functions

Regulation of hepcidin expressionIron homeostasisCleavage of hemojuvelin (HJV)Regulation of BMP/SMAD pathway
04

Disease associations

Iron-Refractory Iron Deficiency Anemia (IRIDA)
05

Safety considerations

Potential for off-target effects due to serine protease activityUnintended consequences of altering iron homeostasisResistance to oral iron therapy in IRIDA patients
06

Biomarkers

Hepcidin levelsSerum ironTransferrin saturationHemoglobin levelsTMPRSS6 mutations

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