LP188490-9
ATP5A1 gene
Active
Descriptions
The ATP5A1 gene encodes the alpha subunit of mitochondrial ATP synthase F1 complex. PMID: 1830491 At least one family with combined oxidative phosphorylation deficiency-22 (COXPD22) was found to have a homozygous missense mutation in the ATP5A1 gene. PMID: 23596069 Mutations in the ATP5A1 gene can also cause mitochondrial complex V deficiency nuclear type 4 (MC5DN4), which display similar clinical features as COXPD22. PMID: 23599390 Source: Regenstrief LOINC
The ATP5A1 gene (ATP synthase, H+ transporting, mitochondrial F1 complex, alpha subunit 1, cardiac muscle) [HGNC Gene ID:823] is located on chromosome 18q21. 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] [NCBI Gene ID:498] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- ATP5A1 gene
- Part Display Name
- ATP5A1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2015-01-05
- Construct for LOINC Short Name
- ATP5A1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | ATP5A1 基因 Synonyms: ATP 合成酶, H+ 转运, 线粒体 F1 复合体, Alpha 亚基 1, 心肌; |
| es-ES | Spanish (Spain) | Gen ATP5A1 |
| it-IT | Italian (Italy) | ATP5A1, gene Synonyms: Gene ATP5A1 |
| tr-TR | Turkish (Turkey) | ATP5A1 geni |
| nl-NL | Dutch (Netherlands) | ATP5A1-gen Synonyms: ATP5A1 gen |
| fr-FR | French (France) | ATP5A1 gène |
| pl-PL | Polish (Poland) | ATP5A1 gen Synonyms: Gen ATP5A1; |
| el-GR | Greek (Greece) | Γονίδιο ATP5A1 Synonyms: Γονίδιο ATP5A1 |
LOINC Copyright
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