Soluble HJV19, and transmembrane protease, serine 6 (TMPRSS6
) also down-regulate hepcidin expression.32,33
Rausa et al., "The erythroid function of transferrin receptor 2 revealed by Tmprss6
inactivation in different models of transferrin receptor 2 knockout mice," Haematologica, vol.
(2008) The serine protease matriptase-2 (TMPRSS6
) inhibits hepcidin activation by cleaving membrane hemojuvelin.
Functional and clinical impact of novel TMPRSS6
variants in iron-refractory iron-deficiency anemia patients and genotype-phenotype studies.
Common variants in TMPRSS6
are associated with iron status and erythrocyte volume.
Alnylam also reported that the systemic administration of an LNP-formulated siRNA targeting Transmembrane protease, serine 6 (Tmprss6
) represents a potential novel approach to treat congenital iron overload disorders.
Children with a mutation in the TMPRSS6
gene produce too much hepcidin, a protein that regulates intracellular iron transport.
London, Oct 12 (ANI): Scientists have found that a gene, known as TMPRSS6, has a significant effect on regulating haemoglobin in the body.
TMPRSS6's role was identified as part of a genome-wide association study, carried out by scientists from Imperial College London, which looked at the link between genes and haemoglobin level in 16,000 people.
Under low iron conditions, membrane-bound HJV is cleaved by matriptase-2, a transmembrane protease serine 6, encoded bythe transmembrane protease, serine 6 (TMPRSS6
)  gene, expressed predominantly in the liver (48, 49).