LongevityMap variant

Entry Details

Longevity Association: Significant
Population: Italian
Study Design: The 1-bp guanine deletion/insertion (4G/5G) polymorphism in the promoter region was examined in 124 healthy individuals >100 years old and 130 young, healthy individuals
Conclusions: In centenarians there was a significantly higher frequency of the 4G allele and of the homozygous 4G4G genotype associated with high PAI-1 (SERPINE1) levels

HGNC symbol: SERPINE1
Aliases: PAI; PAI1; PAI-1; PLANH1
Common name: serpin family E member 1
Description: 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]
Other longevity studies of this gene: 6
OMIM: 173360
Ensembl: ENSG00000106366
UniProt/Swiss-Prot: A0A024QYT5_HUMAN
Entrez Gene: 5054
UniGene: 414795
HapMap: View on HapMap

GenAge model organism genes

GenAge human genes

GenAge microarray genes

CellAge

Mannucci et al. (1997)