FunctionSerine protease which hydrolyzes a range of proteins including type I collagen, fibronectin and fibrinogen. Can also activate urokinase-type plasminogen activator with low efficiency. May play a specialized role in matrix remodeling processes in liver. Required to sense iron deficiency. Overexpression suppresses activation of the HAMP promoter.
Tissue specificityLiver specific.
Involvement in diseaseDefects in TMPRSS6 are the cause of iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]; also known as hypochromic microcytic anemia with defect in iron metabolism or hereditary iron-handling disorder or pseudo-iron-deficiency anemia. Key features include congenital hypochromic microcytic anemia, very low mean corpuscular erythrocyte volume, low transferrin saturation, abnormal iron absorption characterized by no hematologic improvement following treatment with oral iron, and abnormal iron utilization characterized by a sluggish, incomplete response to parenteral iron.
Sequence similaritiesBelongs to the peptidase S1 family. Contains 2 CUB domains. Contains 3 LDL-receptor class A domains. Contains 1 peptidase S1 domain.
DomainCytoplasmic domain mediates HAMP suppression via proximal promoter element(s).
Western blot - Matriptase 2 antibody - Cytoplasmic domain (ab56180)
All lanes : Anti-Matriptase 2 antibody - Cytoplasmic domain (ab56180) at 1/1000 dilution
Lane 1 : Cell media from human embryonic kidney HEK293 cells Lane 2 : Cell media from human embryonic kidney HEK293 cells Lane 3 : Cell media from human embryonic kidney HEK293 cells
Predicted band size : 89 kDa
References for Anti-Matriptase 2 antibody - Cytoplasmic domain (ab56180)
This product has been referenced in:
Lamothe SM et al. The Human Ether-a-go-go-related Gene (hERG) Potassium Channel Represents an Unusual Target for Protease-mediated Damage. J Biol Chem291:20387-401 (2016).
Read more (PubMed: 27502273) »
Foka P et al. A complex signaling network involving protein kinase CK2 is required for hepatitis C virus core protein-mediated modulation of the iron-regulatory hepcidin gene expression. Cell Mol Life SciN/A:N/A (2014).
Read more (PubMed: 24718935) »