PPFIBP1
Chr 12ARPPFIB scaffold protein 1
Also known as: L2, NEDSMBA, SGT2, hSGT2, hSgt2p
The protein encoded by PPFIBP1 is a member of the liprin family that acts as a scaffold for recruiting and anchoring LAR family tyrosine phosphatases and may regulate focal adhesion disassembly. Biallelic mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities. The gene shows moderate constraint against loss-of-function variants (LOEUF 0.751), suggesting some tolerance to functional disruption.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
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
PPFIBP1 · 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