ATP5MK
Chr 10ARATP synthase membrane subunit k
Also known as: AGP, ATP5MD, DAPIT, HCVFTP2, MC5DN6, USMG5, bA792D24.4
The ATP5MK protein is a subunit of mitochondrial ATP synthase (Complex V) that is required for dimerization of the enzyme complex and regulation of ATP synthesis from ADP using the proton gradient generated by the respiratory chain. Mutations cause mitochondrial complex V deficiency nuclear type 6, which is inherited in an autosomal recessive pattern. This gene has relatively low constraint against loss-of-function variants (LOEUF 1.69), and a GeneReviews entry is available for additional clinical guidance.
Moderate evidence — consider for supplementary testing
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
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
46 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 | 1 | 0 | 17 | 0 | 18 |
Likely Pathogenic | 2 | 0 | 1 | 0 | 3 |
VUS | 0 | 8 | 8 | 0 | 16 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 3 | 9 | 26 | 1 | 40 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ATP5MK · 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