ATP5MK Chromosome 10
ATP synthase membrane subunit k
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What This Gene Does
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]
Gene Info
Gene Group
"Mitochondrial complex V: ATP synthase subunits|MicroRNA protein coding host genes"
Locus Type
gene with protein product
Location
10q24.33
Ensembl
ENSG00000173915
Associated Conditions (3)
Mitochondrial complex 5 (ATP synthase) deficiency
nuclear type 6
Sarcoma
Key Variants
All Variants (2)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1339841048 | Health Risk | Likely pathogenic | Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6, Mitochondrial complex 5 (ATP synthase) deficiency |
| RS146599698 | Health Risk | Pathogenic | Mitochondrial complex 5 (ATP synthase) deficiency, nuclear type 6, Sarcoma |