ATP5PO
Chr 21ARATP synthase peripheral stalk subunit OSCP
Also known as: ATP5O, ATPO, HMC08D05, MC5DN7, OSCP
The protein is a subunit of mitochondrial ATP synthase (Complex V) that helps link the catalytic and membrane domains and maintains structural stability during ATP production from ADP. Mutations cause mitochondrial complex V deficiency with autosomal recessive inheritance, resulting in a mitochondrial disorder that affects cellular energy production. This gene has a GeneReviews entry available for detailed clinical guidance.
Strong evidence — appropriate for clinical testing
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 dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ATP5PO · 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