ATP5F1A ATP synthase F1 subunit alpha
Gene ID: 498, updated on 27-Nov-2024Gene type: protein coding
Also known as: OMR; ORM; ATPM; MOM2; ATP5A; hATP1; ATP5A1; MC5DN4; ATP5AL2; COXPD22; MC5DN4A; MC5DN4B; HEL-S-123m
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- Go to complete Gene record for ATP5F1A
- Go to Variation Viewer for ATP5F1A variants
Summary
This gene encodes a subunit of mitochondrial ATP synthase. Mitochondrial ATP synthase catalyzes ATP synthesis, using an electrochemical gradient of protons across the inner membrane during oxidative phosphorylation. ATP synthase is composed of two linked multi-subunit complexes: the soluble catalytic core, F1, and the membrane-spanning component, Fo, comprising the proton channel. The catalytic portion of mitochondrial ATP synthase consists of 5 different subunits (alpha, beta, gamma, delta, and epsilon) assembled with a stoichiometry of 3 alpha, 3 beta, and a single representative of the other 3. The proton channel consists of three main subunits (a, b, c). This gene encodes the alpha subunit of the catalytic core. Alternatively spliced transcript variants encoding the different isoforms have been identified. Pseudogenes of this gene are located on chromosomes 9, 2, and 16. [provided by RefSeq, Mar 2012]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Combined oxidative phosphorylation deficiency 22 | not available |
| Mitochondrial complex V (ATP synthase) deficiency nuclear type 4B | not available |
| Mitochondrial complex V (ATP synthase) deficiency, nuclear type 4A | not available |
Genomic context
- Location:
- 18q21.1
- Sequence:
- Chromosome: 18; NC_000018.10 (46080248..46104227, complement)
- Total number of exons:
- 13
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for ATP5F1A 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
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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