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In examining iron variant associations with glucose homeostasis, an iron-raising variant of TMPRSS6 was associated with lower HbA1c levels (P = 8.66 x 10-10).
Studies in colonic T84 cell monolayers revealed that barrier disruption by the colitis-associated Th2-type cytokines, IL-4 (show IL4 Proteins) and IL-13 (show IL13 Proteins), down-regulates matriptase (show ST14 Proteins) as well as prostasin (show PRSS8 Proteins) through phosphorylation of the transcriptional regulator STAT6 (show STAT6 Proteins)
TMPRSS6 gene sequencing in 20 cases with IRIDA phenotype revealed 9 potentially deleterious intronic and two benign exonic variations in 12/20 cases (60%).
Study suggests that deregulated pericellular matriptase (show ST14 Proteins) activity in OSCC may transactivate PAR-2 (show F2RL1 Proteins) on fibroblasts in the surrounding tissue and thus promote their recruitment to the perimeter of the tumor, contributing to a microenvironement that favors tumor growth of oral squamous cell carcinoma.
All cases were either homozygous or compound heterozygous for missense or frameshift mutations in the TMPRSS6 gene, 2 of the mutations being novel (Cys410Ser and Leu689Pro)
TMPRSS6 expression is significantly downregulated in human masticatory mucosa during wound healing
Matriptase-2 deficiency causes iron deficiency anemia during the early postnatal development, but not during fetal development in humans.
Iron refractory iron deficiency anemia is caused by mutations of TMPRSS6 which encodes matriptase-2, a serine protease (show F2 Proteins) expressed on cell membranes of hepatocytes which is involved in the hepcidin (show HAMP Proteins) regulatory pathways by processing hemojuvelin (show HFE2 Proteins) protein.
Combination of Tmprss6- ASO and the iron chelator deferiprone improves erythropoiesis and reduces iron overload in a mouse model of beta-thalassemia intermedia.
Data show that p.V736A TMPRSS6 variant (rs855791) influences the susceptibility to hepatic iron accumulation in NTDT patients, and the risk allele is 736(A).
The results provide support for the interaction between TMPRSS6 and hemojuvelin (show HFE2 Proteins) in vivo; they also suggest that hemojuvelin (show HFE2 Proteins) could be cleaved by another as yet unknown protease in the absence of functional TMPRSS6.
the function of matriptase-2 is dominant over that of ERFE and is essential in facilitating hepcidin (show HAMP Proteins) suppression by attenuating the BMP-SMAD (show SMAD1 Proteins) signaling.
role of fetuin-A (show AHSG Proteins) in iron homeostasis and provide new insights into the mechanism of how matriptase-2 might modulate hepcidin (show HAMP Proteins) expression
TMPRSS6 inhibition via decreased STAT5 (show STAT5A Proteins) phosphorylation may be an additional mechanism by which inflammation stimulates hepcidin (show HAMP Proteins) expression to regulate iron homeostasis and immunity.
matriptase-2 (encoded by Tmprss6)-is responsible for hepcidin (show HAMP Proteins) repression throughout development, with its deficiency leading to increased hepcidin (show HAMP Proteins) levels triggering iron deficiency and anemia starting in utero
The iron-regulatory serine protease (show F2 Proteins) matriptase-2 is expressed in the retina, and absence of this enzyme leads to iron deficiency.
Loss of matriptase-2 increases bone morphogenetic protein-dependent signaling, while paradoxically decreasing liver hemojuvelin (show HFE2 Proteins) protein content.
Results confirm the anti-inflammatory status of Tmprss6 KO mice and identify new potential target pathways/genes of Tmprss6.
Tmprss6 gene knockdown reduces iron overload in an animal model of hemochromatosis (show HFE Proteins) and improves both iron overload and anemia in mice affected by beta-thalassemia.
The protein encoded by this gene is a type II transmembrane serine proteinase that is found attached to the cell surface. The encoded protein may be involved in matrix remodeling processes in the liver.
transmembrane protease serine 6
, transmembrane serine protease 6
, membrane-bound mosaic serine proteinase matriptase-2
, type II transmembrane serine protease 6
, matriptase 2
, transmembrane protease, serine 6