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 |
|---|---|---|---|
| RS1057518702 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1272572107 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1329322647 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS138727886 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS141862527 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases |
| RS191995452 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS201156613 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147179733 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147184517 | Health Risk | Conflicting classifications of pathogenicity | See cases, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518500437 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518508058 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS745607005 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS749319044 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Intellectual disability, Inborn genetic diseases |
| RS749903004 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS752082232 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS752678074 | Health Risk | Conflicting classifications of pathogenicity | See cases, Pyruvate dehydrogenase E1-alpha deficiency, See cases |
| RS762505127 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases |
| RS764728647 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS764996618 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases |
| RS767503319 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Inborn genetic diseases |
| RS768396832 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS769308417 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS794727621 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS794727843 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS886044701 | Health Risk | Conflicting classifications of pathogenicity | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1057523018 | Health Risk | Likely pathogenic | — |
| RS1064793225 | Health Risk | Likely pathogenic | — |
| RS1131691952 | Health Risk | Likely pathogenic | — |
| RS1131692230 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1157736285 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853256 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555933643 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555933663 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555933954 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555934165 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555934383 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935223 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935486 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency |
| RS1569190422 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1569191879 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602226867 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602227679 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063135938 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063188850 | Health Risk | Likely pathogenic | — |
| RS2063192428 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063213491 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Nonpapillary renal cell carcinoma, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063233462 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063246734 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147168716 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147180742 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |