Phosphatase and actin regulator 1
PHACTR1genePhosphatase regulating actin dynamics in endothelial dysfunction, arterial calcification, and fibrous-cap degradation driving plaque vulnerability and rupture.
Pathway placement
Cascade stepEndothelial activation & erosion
Confidencehigh
RationaleActin cytoskeleton in endothelial/SMC contraction; calcification and plaque vulnerability via multiple mechanisms.
Also acts inCap degradation / rupture, Vascular inflammation
Druggability
DruggableYes
Known drugs / candidates0
Small-molecule tractableYes
Antibody tractableNo
EnsemblENSG00000112137
Assay & specimen
Class-level default (no specific cleared assay)— generic method inferred from analyte class; confirm against a specific product insert before use.
Specimen
Whole blood — gene is not a circulating analyte; measure protein product or genotype
Collection tube
K2-EDTA whole blood (lavender-top)
Method / principle
SNP genotyping / sequencing; or immunoassay of encoded protein
Reagent / substrate
Allele-specific primers/probes (TaqMan) or NGS panel; or antibody for protein
Platform
qPCR / NGS / array
Turnaround · availability
Send-out · Genotyping widely available; protein assay variable
Human genetic evidence
0.524
Open Targets association (myocardial_infarction)
17
GWAS associations
Traits: myocardial infarction
Literature evidence(5)
- , a coronary artery disease risk gene, mediates endothelial dysfunction.Frontiers in immunology · 2022 · PMID 36091033 · doi
- Genetic investigation of fibromuscular dysplasia identifies risk loci and shared genetics with common cardiovascular diseases.Nature communications · 2021 · PMID 34654805 · doi
- Association of six genetic variants with myocardial infarction.International journal of molecular medicine · 2015 · PMID 25738804 · doi
- Genome-wide association study of coronary and aortic calcification implicates risk loci for coronary artery disease and myocardial infarction.Atherosclerosis · 2013 · PMID 23561647 · doi
- From genotype to phenotype in human atherosclerosis--recent findings.Current opinion in lipidology · 2013 · PMID 24005217 · doi