Gene: SERPINE1

Alternate names for this Gene: PAI|PAI-1|PAI1|PLANH1

Gene 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.

Gene is located in Chromosome: 7

Location in Chromosome : 7q22.1

Description of this Gene: serpin family E member 1

Type of Gene: protein-coding

rs3020623 in SERPINE1 gene and Body Height PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs1194865614 in SERPINE1 gene and Plasminogen Activator Inhibitor-1 Deficiency PMID 1435917 1992 Brief report: complete deficiency of plasminogen-activator inhibitor type 1 due to a frame-shift mutation.

PMID 21486382 2011 Life-threatening hemorrhage and prolonged wound healing are remarkable phenotypes manifested by complete plasminogen activator inhibitor-1 deficiency in humans.

rs3020623 in SERPINE1 gene and Red Blood Cell Count measurement PMID 30595370 2019 Leveraging Polygenic Functional Enrichment to Improve GWAS Power.

rs2227700 in SERPINE1 gene and Triglycerides measurement PMID 23063622 2012 Large-scale gene-centric meta-analysis across 32 studies identifies multiple lipid loci.