SERPINE1 Chromosome 7
Serpin family E member 1
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What This Gene Does
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. The protein also functions as a component of innate antiviral immunity. 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. [provided by RefSeq, Aug 2020]
Gene Info
Gene Group
Serpin peptidase inhibitors
Locus Type
gene with protein product
Location
7q22.1
Ensembl
ENSG00000106366
Associated Conditions (3)
Congenital plasminogen activator inhibitor type 1 deficiency
Abnormal bleeding
Transcription level of plasminogen activator inhibitor 1
Key Variants
RS200318916
Conflicting classifications of pathogenicity
Congenital plasminogen activator inhibitor type 1 deficiency, Congenital plasminogen activator inhibitor type 1 deficiency
Health Risk
RS1584902091
Likely pathogenic
Abnormal bleeding, Abnormal bleeding
Health Risk
RS1194865614
Pathogenic
Congenital plasminogen activator inhibitor type 1 deficiency, Congenital plasminogen activator inhibitor type 1 deficiency
Health Risk
RS1799762
Pathogenic; other
Transcription level of plasminogen activator inhibitor 1, Transcription level of plasminogen activator inhibitor 1
Health Risk
All Variants (4)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200318916 | Health Risk | Conflicting classifications of pathogenicity | Congenital plasminogen activator inhibitor type 1 deficiency, Congenital plasminogen activator inhibitor type 1 deficiency |
| RS1584902091 | Health Risk | Likely pathogenic | Abnormal bleeding, Abnormal bleeding |
| RS1194865614 | Health Risk | Pathogenic | Congenital plasminogen activator inhibitor type 1 deficiency, Congenital plasminogen activator inhibitor type 1 deficiency |
| RS1799762 | Health Risk | Pathogenic; other | Transcription level of plasminogen activator inhibitor 1, Transcription level of plasminogen activator inhibitor 1 |