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 ?
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).
049 transporter activity Group GOID Gene symbol or representative public ID Signal GO:0005030 NTRK1, NTRK2 transduction GO:0001614 P2RX4, P2RY2, ENSGALG00000012080 GO:0016502 P2RX4, P2RY2, ENSGALG00000012080 GO:0043121 NTRK1, NTRK2 GO:0035586 P2RX4, P2RY2, ENSGALG00000012080 GO:0004888 OXTR, LOC431251, SSTR3, CHRM2, ADRA2B, P2RX4, P2RY2, EDNRB2, GABRB2, GABRG2, LOC428961, NPFFR2, GRIN2B, GRIN3A, NTRK1, NTRK2, EPHB6, DDR2, TMPRSS6, PCSK5, CCKAR, IFNAR2, CSF1R, TLR5, OR10A7, LOC768958, LOC769317, LOC777484, GPR39, GPR97, ENSGALG00000017405, ENSGALG00000017093, ENSGALG00000012080.
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.
The enzyme protein produced by the TMPRSS6 gene is a good target for drug development.
Most patients with iron-refractory IDA are resistant to dietary iron supplementation, owing to a defect in the TMPRSS6 gene encoding matriptase-2.
Regulation of type II transmembrane serine proteinase TMPRSS6 by hypoxia-inducible factors: new link between hypoxia signalling and iron homeostasis.
A novel TMPRSS6 mutation that prevents protease auto-activation causes IRIDA.
Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA).
Alnylam continues to advance its additional 'Alnylam 5x15' programs, including: ALN-PCS, an RNAi therapeutic targeting PCSK9 for the treatment of severe hypercholesterolemia; ALN-HPN, an RNAi therapeutic targeting the hepcidin pathway for the treatment of refractory anemia; and ALN-TMP, an RNAi therapeutic targeting TMPRSS6 for the treatment of hemoglobinopathies, amongst other pre-clinical programs.