PABPN1
Chr 14ADpoly(A) binding protein nuclear 1
Also known as: OPMD, PAB2, PABII, PABP-2, PABP2
The PABPN1 protein binds to poly(A) tails and is required for efficient polyadenylation of mRNA transcripts, controlling poly(A) tail length and participating in various aspects of mRNA metabolism. Mutations cause oculopharyngeal muscular dystrophy, a late-onset autosomal dominant condition primarily affecting the muscles of the eyelids and throat. This gene shows moderate constraint against loss-of-function variants (LOEUF 0.569), and the disease typically results from expansion of a GCG trinucleotide repeat in the coding region.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
The Badonyi & Marsh model scores loss-of-function highest, but genomic evidence most strongly supports gain-of-function as the primary mechanism.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
PABPN1 · 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
External Resources
Links to major genomics databases and tools