功能Serine 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.
疾病相关Defects 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.
序列相似性Belongs to the peptidase S1 family. Contains 2 CUB domains. Contains 3 LDL-receptor class A domains. Contains 1 peptidase S1 domain.
结构域Cytoplasmic domain mediates HAMP suppression via proximal promoter element(s).
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) »