TMPRSS6 Antibody – Rabbit Polyclonal

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. Plays a role in the regulation of iron homeostasis, a process involving HAMP. Required to sense iron deficiency and suppress activation of the HAMP promoter. Ref.1 Ref.15

Subunit structure: Interacts with HFE2. Ref.10 Ref.13

Subcellular location: Cell membrane; Single-pass type II membrane protein Ref.1 Ref.12.

Tissue specificity: Liver specific. Ref.1

Domain: Cytoplasmic domain mediates HAMP suppression via proximal promoter element(s)

By similarity.

Post-translational modification: The single-chain zymogen undergoes proteolytic processing. This results in TMPRSS6 shedding from the cell surface and conversion into an activated two-chains form. The process involves a trans-activation mechanism that requires TMPRSS6 oligomerization.

Involvement in disease: Iron-refractory iron deficiency anemia (IRIDA) [MIM:206200]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (Ref.19). Ref.9 Ref.10 Ref.11 Ref.13 Ref.15 Ref.16 Ref.17 Ref.19 Ref.21 Ref.22

Sequence similarities: Belongs to the peptidase S1 family.Contains 2 CUB domains.Contains 3 LDL-receptor class A domains.Contains 1 peptidase S1 domain.