MT-ATP6 Chromosome MT
Mitochondrially encoded ATP synthase membrane subunit 6
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What This Gene Does
Enables proton channel activity. Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis and proton transmembrane transport. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Mitochondrial complex V: ATP synthase subunits|Mitochondrially encoded protein coding genes"
Locus Type
gene with protein product
Location
mitochondria
Ensembl
ENSG00000198899
Associated Conditions (28)
Leigh syndrome
Mitochondrial disease
Progressive cerebellar ataxia
See cases
Leber optic atrophy
MT-ATP6-related primary mitochondrial disease
MT-ATP6-related disorder
NARP syndrome
Primary mitochondrial disorders
Striatonigral degeneration
infantile
mitochondrial
Mitochondrial complex 5 (ATP synthase) deficiency
mitochondrial type 1
Maternally-inherited spastic paraplegia
Myopathy
lactic acidosis
and sideroblastic anemia 3
MELAS syndrome
Bicuspid aortic valve
+8 more conditions
Key Variants
RS1603221634
Conflicting classifications of pathogenicity
Leigh syndrome, Leigh syndrome
Health Risk
RS1556423632
Likely pathogenic
Leigh syndrome, Mitochondrial disease, Leigh syndrome
Health Risk
RS1603222000
Likely pathogenic
Progressive cerebellar ataxia, Leigh syndrome, See cases
Health Risk
RS199476135
Likely pathogenic
Leigh syndrome, Striatonigral degeneration, infantile
Health Risk
RS2521964059
Likely pathogenic
Mitochondrial disease, Leigh syndrome, Mitochondrial disease
Health Risk
RS387906423
Likely pathogenic
NARP syndrome, Mitochondrial disease, NARP syndrome
Health Risk
RS794726857
Likely pathogenic
Myopathy, lactic acidosis, and sideroblastic anemia 3
Health Risk
RS1569484234
Pathogenic
Bicuspid aortic valve, Bicuspid aortic valve
Health Risk
RS199476133
Pathogenic
Leigh syndrome, NARP syndrome, Cerebellar ataxia
Health Risk
RS199476138
Pathogenic
Leigh syndrome, Charcot-Marie-Tooth disease, Mitochondrial disease
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603221634 | Health Risk | Conflicting classifications of pathogenicity | Leigh syndrome, Leigh syndrome |
| RS1556423632 | Health Risk | Likely pathogenic | Leigh syndrome, Mitochondrial disease, Leigh syndrome |
| RS1603222000 | Health Risk | Likely pathogenic | Progressive cerebellar ataxia, Leigh syndrome, See cases |
| RS199476135 | Health Risk | Likely pathogenic | Leigh syndrome, Striatonigral degeneration, infantile |
| RS2521964059 | Health Risk | Likely pathogenic | Mitochondrial disease, Leigh syndrome, Mitochondrial disease |
| RS387906423 | Health Risk | Likely pathogenic | NARP syndrome, Mitochondrial disease, NARP syndrome |
| RS794726857 | Health Risk | Likely pathogenic | Myopathy, lactic acidosis, and sideroblastic anemia 3 |
| RS1569484234 | Health Risk | Pathogenic | Bicuspid aortic valve, Bicuspid aortic valve |
| RS199476133 | Health Risk | Pathogenic | Leigh syndrome, NARP syndrome, Cerebellar ataxia |
| RS199476138 | Health Risk | Pathogenic | Leigh syndrome, Charcot-Marie-Tooth disease, Mitochondrial disease |