PABPC4
Chr 1poly(A) binding protein cytoplasmic 4
Also known as: APP-1, APP1, PABP4, iPABP
The protein binds to the poly(A) tail of mRNA and regulates mRNA stability and metabolism, with particularly high expression in activated T cells and platelets. Mutations in PABPC4 cause autosomal dominant oculopharyngodistal myopathy, a progressive muscle disorder affecting the eyes, throat, and distal limbs. The gene is highly constrained against loss-of-function variants (pLI = 1.0, LOEUF = 0.23), indicating intolerance to protein-disrupting mutations.
Some data sources returned errors (1)
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Moderately missense-constrained (top ~2.5%)
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PABPC4 · 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
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools