TMPRSS6

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 ?
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.
Dos proteinas regulan la HJV, la matriptasa 2 tambien llamada TMPRSS6, una serina proteasa que actua como regulador negativo de la HJV (80) y la neogenina, que interactua con la HJV, la BPM y su receptor, modulando positivamente la expresion de la Hpc por medio de un complejo de union a HVJ (81).
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.
We will also take forward into stage 3 known variants in the TMPRSS6 gene, that are associated with Haemoglobin, and the protein product of which is associated with the relevant pathway - HIF signaling.
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).