Aliases: PAI, PAI-1, PAI1, PLANH1
Chromosome No: 7
Chromosome Band: 7q22.1
Genetic Category: Genetic association
ASD Reports: 2
Recent Reports: 0
Annotated variants: 1
Associated CNVs: 3
Evidence score: null
| Associated Disorders: |
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Relevance to Autism
FBAT analysis of a 664-family ASD sample revealed association with ASD diagnosis of the C allele at rs13238709, a marker 3' to the SERPINE1 gene (P=0.048) (Campbell et al., 2008). However, no association between the 4G/5G polymorphism of the SERPINE1 gene promoter and autistic disorder was observed in Persico et al., 2001.
Molecular Function
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.
External Links
