Gene Symbol | SERPINE1 |
Entrez Gene ID | 5054 |
Full Name | serpin family E member 1 |
Synonyms | PAI,PAI-1,PAI1,PLANH1 |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | This gene encodes a member of the serine proteinase inhibitor (serpin) superfamily. This member is the principal inhibitor of tissue plasminogen activator (tPA) and urokinase (uPA), and hence is an inhibitor of fibrinolysis. Defects in this gene are the cause of plasminogen activator inhibitor-1 deficiency (PAI-1 deficiency), and high concentrations of the gene product are associated with thrombophilia. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2009]. |
Disorder MIM: | |
Disorder Html: | Plasminogen activator inhibitor-1 deficiency, 613329 (3); {Transcription of plasminogen activator inhibitor, modulator of} (3) |