PNPLA3

PNPLA3gene

PNPLA3 variant modulates hepatic lipid remodeling and circulating lipoprotein lipid composition.

Pathway placement

Cascade stepOff-pathway / systemic markers

Confidencemedium

RationaleI148M variant influences lipid metabolism and lipoprotein composition; systemic metabolic axis.

Also acts inLipid entry/oxidation

Druggability

Not assessed (no mapped human gene target).

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