ATPAF1
Chr 1ATP synthase mitochondrial F1 complex assembly factor 1
Also known as: ATP11, ATP11p
The protein is an assembly factor for the F1 component of mitochondrial ATP synthase, binding specifically to the F1 beta subunit to prevent nonproductive homooligomer formation during enzyme assembly. Mutations cause autosomal recessive mitochondrial complex V deficiency, resulting in early-onset neurological dysfunction affecting the brain and other energy-demanding tissues. The gene shows tolerance to loss-of-function variants (low pLI score), consistent with its recessive inheritance pattern.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
33 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 | 4 | 0 | 4 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 14 | 3 | 0 | 17 |
Likely Benign | 0 | 0 | 0 | 2 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 14 | 9 | 2 | 25 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATPAF1 · 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