PLAU Chromosome 10
Plasminogen activator, urokinase
Upload your DNA to see your personal genotypes for variants in PLAU.
What This Gene Does
This gene encodes a secreted serine protease that converts plasminogen to plasmin. The encoded preproprotein is proteolytically processed to generate A and B polypeptide chains. These chains associate via a single disulfide bond to form the catalytically inactive high molecular weight urokinase-type plasminogen activator (HMW-uPA). HMW-uPA can be further processed into the catalytically active low molecular weight urokinase-type plasminogen activator (LMW-uPA). This low molecular weight form does not bind to the urokinase-type plasminogen activator receptor. Mutations in this gene may be associated with Quebec platelet disorder and late-onset Alzheimer's disease. Alternative splicing results in multiple transcript variants, at least one of which encodes an isoform that is proteolytically processed. [provided by RefSeq, Jan 2016]
Gene Info
Gene Group
Kringle domain containing
Locus Type
gene with protein product
Location
10q22.2
Ensembl
ENSG00000122861
Associated Conditions (2)
Quebec platelet disorder
Alzheimer disease type 1
Key Variants
RS201299522
Conflicting classifications of pathogenicity
Quebec platelet disorder, Quebec platelet disorder
Health Risk
RS371106595
Conflicting classifications of pathogenicity
Quebec platelet disorder, Alzheimer disease type 1, Quebec platelet disorder
Health Risk
RS528761202
Conflicting classifications of pathogenicity
Quebec platelet disorder, Quebec platelet disorder
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201299522 | Health Risk | Conflicting classifications of pathogenicity | Quebec platelet disorder, Quebec platelet disorder |
| RS371106595 | Health Risk | Conflicting classifications of pathogenicity | Quebec platelet disorder, Alzheimer disease type 1, Quebec platelet disorder |
| RS528761202 | Health Risk | Conflicting classifications of pathogenicity | Quebec platelet disorder, Quebec platelet disorder |