PDHA1 Chromosome X
Pyruvate dehydrogenase E1 subunit alpha 1
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What This Gene Does
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]
Gene Info
Gene Group
Pyruvate dehydrogenase complex subunits
Locus Type
gene with protein product
Location
Xp22.12
Ensembl
ENSG00000131828
Associated Conditions (13)
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase complex deficiency
Inborn genetic diseases
PDHA1-related disorder
See cases
Intellectual disability
Nonpapillary renal cell carcinoma
Abnormality of the mitochondrion
Thyroid cancer
nonmedullary
1
SUDDEN INFANT DEATH SYNDROME
Neurodevelopmental delay
Key Variants
RS1057518702
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS1272572107
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS1329322647
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS138727886
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS141862527
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases
Health Risk
RS191995452
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS201156613
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS2147179733
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS2147184517
Conflicting classifications of pathogenicity
See cases, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS2518500437
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS2518508058
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
RS745607005
Conflicting classifications of pathogenicity
Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency
Health Risk
All Variants (161)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1555934379 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Thyroid cancer, nonmedullary |
| RS1555934859 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS199959402 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063174067 | Health Risk | Pathogenic/Likely pathogenic | Inborn genetic diseases, Neurodevelopmental delay, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063213272 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147176072 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147188973 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518507553 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518508016 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231188 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS794729213 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |