PABPC1
Chr 8poly(A) binding protein cytoplasmic 1
Also known as: PAB1, PABP, PABP1, PABPC2, PABPL1
The poly(A) binding protein binds to the poly(A) tail of mRNAs and regulates mRNA stability, translation initiation, and mRNA decay processes. Mutations cause autosomal dominant developmental delay with variable intellectual disability, speech delays, and behavioral abnormalities including autism spectrum features. This gene is highly constrained against loss-of-function variants (pLI 0.996, LOEUF 0.27), indicating that complete loss of protein function is likely incompatible with normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Highly missense-constrained (top ~0.1%)
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
145 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 1 | 36 | 0 | 37 |
Likely Pathogenic | 0 | 1 | 1 | 0 | 2 |
VUS | 1 | 21 | 5 | 0 | 27 |
Likely Benign | 2 | 2 | 1 | 4 | 9 |
Benign | 0 | 0 | 2 | 1 | 3 |
| Total | 3 | 25 | 45 | 5 | 78 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PABPC1 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
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