CYP17A1
CYP17A1geneCYP17A1 genetic variants modulate lipid metabolism and atherosclerosis susceptibility through altered steroid and lipid synthesis.
Pathway placement
Cascade stepOff-pathway / systemic markers
Confidencemedium
RationaleSteroidogenic enzyme; atherosclerosis susceptibility locus; lipid metabolism regulation.
Druggability
DruggableYes
Known drugs / candidates6
Small-molecule tractableYes
Antibody tractableNo
EnsemblENSG00000148795
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
1
GWAS associations
Traits: myocardial infarction
Literature evidence(1)
- CYP17A1 deficient XY mice display susceptibility to atherosclerosis, altered lipidomic profile and atypical sex development.Scientific reports · 2020 · PMID 32472014 · doi