MT-ATP6 mitochondrially encoded ATP synthase 6
Gene ID: 4508, updated on 2-Nov-2024Gene type: protein coding
Also known as: ATPase6; MTATP6; ATP6
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- Go to complete Gene record for MT-ATP6
- Go to Variation Viewer for MT-ATP6 variants
Summary
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 Leber hereditary optic neuropathy; NARP syndrome; Parkinson's disease; multiple sclerosis; and systemic lupus erythematosus. [provided by Alliance of Genome Resources, Nov 2024]
Associated conditions
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| Description | Tests |
|---|---|
| Leber optic atrophy MedGen: C0917796OMIM: 535000GeneReviews: Leber Hereditary Optic Neuropathy, Primary Mitochondrial Disorders Overview | not available |
| NARP syndrome MedGen: C1328349OMIM: 551500GeneReviews: Mitochondrial DNA-Associated Leigh Syndrome Spectrum, Primary Mitochondrial Disorders Overview | not available |
Genomic context
- Sequence:
- Chromosome: MT; NC_012920.1 (8527..9207)
- Total number of exons:
- 0
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for MT-ATP6 variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- Variation ViewerRelated Variants
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