PABIR1
Chr 9PP2A Aalpha (PPP2R1A) and B55A (PPP2R2A) interacting phosphatase regulator 1
Also known as: C9orf42, FAM122A
The protein acts as an inhibitor of serine/threonine-protein phosphatase 2A (PP2A), blocking substrate binding and promoting proteasomal degradation of PP2A components to regulate the G2/M cell cycle checkpoint. Mutations in this gene cause autosomal recessive neurodevelopmental disorder with developmental delay, seizures, and brain abnormalities. The disorder affects the central nervous system with early childhood onset of symptoms including intellectual disability and epilepsy.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
71 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 | 0 | 31 | 0 | 31 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 0 | 26 | 5 | 0 | 31 |
Likely Benign | 0 | 0 | 0 | 0 | 0 |
Benign | 0 | 0 | 1 | 0 | 1 |
| Total | 0 | 26 | 45 | 0 | 71 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PABIR1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools