Sphingomyelinase, Acid

SMPD1gene

SMPD1-catalyzed ceramide production from lipoprotein lipids drives endothelial activation and plaque inflammation.

Pathway placement

Cascade stepLipid retention & oxidation

Confidencemedium

RationaleGenerates ceramides from sphingomyelin; ceramides promote endothelial dysfunction and plaque inflammation.

Also acts inVascular inflammation

Druggability

DruggableYes

Known drugs / candidates0

Small-molecule tractableYes

Antibody tractableYes

EnsemblENSG00000166311

Type I vs Type II discrimination

ScoresLow-confidence (proxy)

R — rupture / Type-I

C — confounder / Type-II

A — assay feasibility

E — evidence strength

T1DI (composite)

Specificity differential (R−C)-20.7

Confounder panel (Type-II drivers)

No confounder evidence retrieved.

Tier: light (literature co-occurrence proxy — lower confidence). See the discrimination table for all markers.

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