Description
Product Characteristics:
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.Involvement in disease:Defects in TMPRSS6 are the cause of iron-refractory iron deficiency anemia (IRIDA), 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.
Subcellular location: Cell membrane
Synonyms: Matriptase-2, Matriptase2, Membrane type serine proteinase 2, MTSP 2, MTSP2, PVAE354, TMPRSS 6, TMPRSS6, TMPS6_HUMAN, TMSP 6, TMSP6, Transmembrane protease serine 6, Type II Membrane Serine Proteinase 6.
Target Information: 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. [provided by RefSeq, Jul 2008]