MT-ATP8
Chr MTATP synthase F0 subunit 8
Also known as: ATPase8, MTATP8
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]
Primary Disease Associations & Inheritance
Clinical highlights
MT-ATP8 is a mitochondrial protein-coding gene. gnomAD constraint, carrier burden and exome coverage, the ClinVar type breakdown, AlphaFold and transcript-architecture views are built for nuclear genes and are not shown. Population data for mtDNA variants (gnomAD v3.1, homoplasmy and heteroplasmy) is on each variant page.
Where it sits in the mitochondrial genome
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37 genes from Ensembl (rCRS numbering, matched to MITOMAP’s Gene Loci); landmarks and disease alleles from MITOMAP (CC BY 3.0). Circular layout after MitoWheel.
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
MT-ATP8 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
MITOMAP Disease Variants — MT-ATP8
Live table ↗| Variant | AA | Disease | Status | GenBank seqs |
|---|---|---|---|---|
| m.8381A>G | T6A | MIDD / LVNC cardiomyopathy-assoc./ ATP6/8 deficiency | Reported | 17 |
| m.8382C>T | T6I | Suspected mito disease / optic neuropathy | Reported | 9 |
| m.8391G>A | W9Term | ATP6/8 deficiency | Reported | 0 |
| m.8393C>T | P10S | Reversible brain pseudoatrophy | Reported | 316 |
| m.8403T>C | I13T | Episodic weakness and progressive neuropathy / ATP6/8 deficiency | Reported | 4 |
| m.8411A>G | M16V | Severe mitochondrial disorder | Reported | 2 |
| m.8412T>C | M16T | Possible LHON helper mutation | Reported | 24 |
| m.8414C>T | L17F | Increased risk of T2DM and high altitude polycythemia (HAPC) in hg D4; longevity; reduced risk of esophageal cancer [D1-D2-D3-D4 marker] | Reported | 2,401 |
| m.8418T>C | L18P | Severe bilateral optic neuropathy | Uncertain significance · reported | 1 |
| m.8424T>C | L20P | LS / failure to thrive / hypotonia / seizures; Suspected mito disease | Reported | 0 |
| m.8481C>T | P39L | Tetralogy of Fallot patient | Reported | 15 |
| m.8490T>C | M42T | Peripheral neuropathy of T2DM | Reported | 25 |
| m.8519G>A | E52K | Possible susceptibility to bullous pemphigoid | Reported | 165 |
| m.8527A>G | ATP8:K54K ATP6:M1M | Neuromuscular disorder, possible helper mutation / dlated cardiomyopathy | Reported | 324 |
| m.8528T>C | ATP8:W55R ATP6:M1T | Infantile cardiomyopathy / hyperammonemia / ATP6/8 deficiency | Likely pathogenic · confirmed | 0 |
| m.8529G>A | ATP8:W55Term ATP6:M1M | Apical HCM | Uncertain significance · reported | 0 |
| m.8535A>G | ATP8:K57Term ATP6:E3E | ATP6/8 deficiency | Reported | 0 |
| m.8551T>C | ATP8:H62H ATP6:F9L | Possible LHON helper mutation | Reported | 18 |
| m.8558C>T | ATP8:P65S ATP6:A11V | Possibly LVNC cardiomyopathy-associated | Reported | 15 |
| m.8561C>G | ATP8:P66A ATP6:P12R | Ataxia w neuropathy, DM, SNHL, and hypogonadism | Reported | 0 |
| m.8561C>T | ATP8:P66S ATP6:P12L | Ataxia w psychomotor delay | Reported | 0 |
| m.8570T>C | ATP8:Term69Q ATP6:L15P | Congenital sideroblastic anemia (CSA) / ATP6/8 deficiency / MILS | Uncertain significance · reported | 0 |
| m.8572G>A | ATP8:Term69Term ATP6:G16S | Spinocerebellar ataxia | Reported | 275 |
As of 2026-10-07 — a dated copy; MITOMAP can’t be fetched live, and the live table may be newer.
Source: MITOMAP (mitomap.org), CC BY 3.0
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.
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Links to major genomics databases and tools