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Transmembrane protease serine 6 (matriptase-2) (TMPRSS6)
- Target
- TMPRSS6
- Molecular classification
- Enzyme, Transmembrane serine protease, Type II transmembrane serine protease (TTSP)
01
Overview
Transmembrane protease serine 6 (also known as matriptase-2), encoded by the TMPRSS6 gene, is a type II transmembrane serine protease expressed primarily in the liver. It regulates iron homeostasis by cleaving cell surface hemojuvelin (HJV), suppressing hepcidin transcription and promoting intestinal iron absorption. Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA) due to elevated hepcidin and reduced ferroportin.
- Other names
- matriptase-2
02
Biological functions
Iron homeostasisProteolytic processing of hemojuvelinRegulation of hepcidin expressionMatrix remodeling
03
Disease associations
Iron-refractory iron deficiency anemia (IRIDA)Iron deficiency anemiaMicrocytic anemia
04
Safety considerations
Mutations lead to impaired iron absorption and anemia
05
Biomarkers
TMPRSS6 mutations (for IRIDA diagnosis)
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