MT-ATP8 Chromosome MT

Mitochondrially encoded ATP synthase membrane subunit 8

3 variants 3 Health Risk

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What This Gene Does

Contributes to proton-transporting ATP synthase activity, rotational mechanism. Involved in proton motive force-driven mitochondrial ATP synthesis. Located in mitochondrion. Part of proton-transporting ATP synthase complex. Implicated in multiple sclerosis and urinary bladder cancer. [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

ENSG00000228253

Associated Conditions (3)

Bicuspid aortic valve

Abnormal aortic valve physiology

Abnormal mitral valve physiology

Key Variants

RS1569484208

Pathogenic

Bicuspid aortic valve, Bicuspid aortic valve

Health Risk

RS1569484209

Pathogenic

Abnormal aortic valve physiology, Abnormal aortic valve physiology

Health Risk

RS1569484221

Pathogenic

Abnormal mitral valve physiology, Abnormal mitral valve physiology

Health Risk

All Variants (3)

RSID	Category	Clinical Significance	Conditions
RS1569484208	Health Risk	Pathogenic	Bicuspid aortic valve, Bicuspid aortic valve
RS1569484209	Health Risk	Pathogenic	Abnormal aortic valve physiology, Abnormal aortic valve physiology
RS1569484221	Health Risk	Pathogenic	Abnormal mitral valve physiology, Abnormal mitral valve physiology