Gene Symbol | SERPINF2 |
Entrez Gene ID | 5345 |
Full Name | serpin family F member 2 |
Synonyms | A2AP,AAP,ALPHA-2-PI,API,PLI |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | 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]. |
Disorder MIM: | |
Disorder Html: | Alpha-2-plasmin inhibitor deficiency, 262850 (3) |