Alpha-2 Antiplasmin (A2AP) Active Protein

This gene encodes a member of the serpin family of serine protease inhibitors. The protein is a major inhibitor of plasmin, which degrades fibrin and various other proteins. Consequently, the proper function of this gene has a major role in regulating the blood clotting pathway. Mutations in this gene result in alpha-2-plasmin inhibitor deficiency, which is characterized by severe hemorrhagic diathesis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]

SERPINF2: Serine protease inhibitor. The major targets of this inhibitor are plasmin and trypsin, but it also inactivates matriptase-3/TMPRSS7 and chymotrypsin. Defects in SERPINF2 are the cause of alpha-2-plasmin inhibitor deficiency (APLID). APLID is an autosomal recessive disorder resulting in severe hemorrhagic diathesis. Belongs to the serpin family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: Secreted, signal peptide; Secreted

Chromosomal Location of Human Ortholog: 17p13

Cellular Component: extracellular space; cell surface; fibrinogen complex; extracellular region

Molecular Function: serine-type endopeptidase inhibitor activity; protein binding; protein homodimerization activity; protease binding; endopeptidase inhibitor activity

Biological Process: platelet activation; collagen fibril organization; positive regulation of smooth muscle cell proliferation; positive regulation of collagen biosynthetic process; positive regulation of JNK cascade; response to organic substance; fibrinolysis; negative regulation of fibrinolysis; platelet degranulation; renin-angiotensin regulation of blood vessel size; positive regulation of stress fiber formation; acute-phase response; blood vessel morphogenesis; positive regulation of transcription from RNA polymerase II promoter; positive regulation of cell differentiation; blood coagulation

Disease: Alpha-2-plasmin Inhibitor Deficiency