GPX4
Chr 19ARglutathione peroxidase 4
Also known as: GPx-4, GSHPx-4, MCSP, PHGPx, SMDS, snGPx, snPHGPx
The protein is an essential antioxidant peroxidase that directly reduces phospholipid hydroperoxides in membranes and lipoproteins, protecting cells from oxidative damage and preventing ferroptosis (iron-dependent cell death). Mutations cause spondylometaphyseal dysplasia, Sedaghatian type, a severe skeletal dysplasia with autosomal recessive inheritance. This gene shows minimal constraint against loss-of-function variants (pLI 0.00005, LOEUF 1.28), consistent with the recessive inheritance pattern where heterozygous carriers are typically unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
GPX4 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
A Randomized, Double-Blind, Placebo Controlled Study to Assess the Efficacy and Safety of SNP-610 for the Treatment of Patients With Non-alcoholic Steatohepatitis
NOT YET RECRUITINGMarkers of Oxidative Stress in Inflammatory Bowel Diseases: Risk Factors and Implications for a Dietetic Approach
ACTIVE NOT RECRUITINGExternal Resources
Links to major genomics databases and tools