PPEF1
Chr Xprotein phosphatase with EF-hand domain 1
Also known as: PP7, PPEF, PPP7C, PPP7CA
This protein is a serine/threonine phosphatase with calcium-binding EF-hand motifs that functions in sensory neuron development and photoreceptor recovery or adaptation responses. Mutations cause autosomal recessive neurodevelopmental disorders affecting vision and neurological function. The gene is highly constrained against loss-of-function variants, indicating that functional copies are critical for normal development.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
ClinVar Variant Classifications
200 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 | 36 | 0 | 36 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 25 | 15 | 0 | 40 |
Likely Benign | 0 | 6 | 0 | 2 | 8 |
Benign | 0 | 0 | 0 | 2 | 2 |
| Total | 0 | 31 | 52 | 4 | 87 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
PPEF1 · 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