ATP5MK

Chr 10AR

ATP synthase membrane subunit k

Also known as: AGP, ATP5MD, DAPIT, HCVFTP2, MC5DN6, USMG5, bA792D24.4

NCBI Gene: 84833ENSG00000173915UniProt: Q96IX5OMIM: 615204

Predicted to be involved in proton motive force-driven ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in mitochondrial complex V (ATP synthase) deficiency nuclear type 6. [provided by Alliance of Genome Resources, Jul 2025]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Mitochondrial complex V (ATP synthase) deficiency, nuclear type 6MIM #618683
AR

Clinical highlights

Gene-disease validity (ClinGen)
Leigh syndrome · ARModerateconsider for supplementary testing2 gene-disease associations curated in total
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.69
LOEUF
DN
Mechanism· predicted
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.69LOEUF
pLI 0.048
Z-score 0.63
OE 0.62 (0.25–1.69)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.09Z-score
OE missense 0.95 (0.70–1.32)
27 obs / 28.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.25–1.69)
0≤0.351.4
Missense OE?0.95 (0.70–1.32)
0≤0.61.4
Synonymous OE?1.44
0≤1.21.6
LoF obs/exp: 2 / 3.2Missense obs/exp: 27 / 28.3Syn Z: -1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

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.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients