Alpha-galactosidase

GLAgene

Alpha-galactosidase gene upregulation driving sphingolipid catabolism in ischemia-reperfusion injury.

Pathway placement

Cascade stepMyocardial injury (shared endpoint)

Confidencelow

RationaleEnzyme upregulation in I/R injury; sphingolipid catabolism during cardiomyocyte stress.

Druggability

DruggableYes

Known drugs / candidates2

Small-molecule tractableYes

Antibody tractableYes

EnsemblENSG00000102393

Type I vs Type II discrimination

ScoresType-II-associated

R — rupture / Type-I

—

C — confounder / Type-II

A — assay feasibility

E — evidence strength

T1DI (composite)

Specificity differential (R−C)-51.7

Confounder panel (Type-II drivers)

1sepsis / systemic inflammationn/a

2anemia / acute blood lossmag 2

3hypovolemia / dehydrationn/a

4tachyarrhythmiamag 2

5hypoxemia / respiratory failuren/a

6hypertensive emergencyn/a

7high-demand / peri-operative stressn/a

Coverage: 2/7 confounders with evidence

Tier: deep-scored (abstract-extracted) · 3 supporting references. 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