background:
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.
Function:
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.
Subcellular Location:
Cell membrane; Single-pass type II membrane protein.
Tissue Specificity:
Liver specific.
DISEASE:
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.
Similarity:
Belongs to the peptidase S1 family.
Contains 2 CUB domains.
Contains 3 LDL-receptor class A domains.
Contains 1 peptidase S1 domain.
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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