TMPRSS6 Antibody – Rabbit Polyclonal

TMPRSS6: 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. 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. Mutations leading to abrogation of TMPRSS6 activity are associated with IRIDA due to elevated levels of hepcidin, a negative regulator of plasma iron pool (PubMed:20232450). Belongs to the peptidase S1 family. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: EC 3.4.21.-; Membrane protein, integral; Protease

Chromosomal Location of Human Ortholog: 22q12.3

Cellular Component: extracellular space; integral to membrane; intracellular; plasma membrane

Molecular Function: protein binding; serine-type endopeptidase activity

Biological Process: angiogenesis; cellular iron ion homeostasis; extracellular matrix organization and biogenesis; fibrinolysis; iron ion homeostasis; membrane protein proteolysis; negative regulation of BMP signaling pathway; negative regulation of transcription from RNA polymerase II promoter; negative regulation of transcription, DNA-dependent; positive regulation of transcription from RNA polymerase II promoter; proteolysis

Disease: Iron-refractory Iron Deficiency Anemia