LP185374-8
PDHA1 gene
Active
Description
The PDHA1 gene (pyruvate dehydrogenase (lipoamide) alpha 1) [HGNC Gene ID:8806] is located on chromosome Xp22.1. The pyruvate dehydrogenase (PDH) complex is a nuclear-encoded mitochondrial multienzyme complex that catalyzes the overall conversion of pyruvate to acetyl-CoA and CO(2), and provides the primary link between glycolysis and the tricarboxylic acid (TCA) cycle. The PDH complex is composed of multiple copies of three enzymatic components: pyruvate dehydrogenase (E1), dihydrolipoamide acetyltransferase (E2) and lipoamide dehydrogenase (E3). The E1 enzyme is a heterotetramer of two alpha and two beta subunits. This gene encodes the E1 alpha 1 subunit containing the E1 active site, and plays a key role in the function of the PDH complex. Mutations in this gene are associated with pyruvate dehydrogenase E1-alpha deficiency and X-linked Leigh syndrome. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Mar 2010] [NCBI Gene ID:5160] Source: National Center for Biotechnology Information (NCBI) Gene
Basic Part Properties
- Part Name
- PDHA1 gene
- Part Display Name
- PDHA1 gene
- Part Type
- Component (Describes the core component or analyte measured)
- Created On
- 2014-07-11
- Construct for LOINC Short Name
- PDHA1
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Language Variants Get Info
| Tag | Language | Translation |
|---|---|---|
| zh-CN | Chinese (China) | PDHA1 基因 Synonyms: 丙酮酸脱氢酶 (硫辛酰胺) alpha 1; |
| es-ES | Spanish (Spain) | Gen PDHA1 |
| it-IT | Italian (Italy) | PDHA1, gene Synonyms: Gene PDHA1 |
| tr-TR | Turkish (Turkey) | PDHA1 geni |
| nl-NL | Dutch (Netherlands) | PDHA1-gen Synonyms: PDHA1 gen |
| fr-FR | French (France) | PDHA1 gène |
| pl-PL | Polish (Poland) | PDHA1 gen Synonyms: Gen PDHA1 |
| el-GR | Greek (Greece) | Γονίδιο PDHA1 Synonyms: Γονίδιο PDHA1 |
LOINC Copyright
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