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 |
|---|---|---|---|
| RS2063189611 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063192913 | Health Risk | Pathogenic | — |
| RS2063213396 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063232292 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063232730 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2063232824 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063244869 | Health Risk | Pathogenic | — |
| RS2063245185 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063246442 | Health Risk | Pathogenic | — |
| RS2147178249 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147180935 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147187186 | Health Risk | Pathogenic | — |
| RS2147187199 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147189315 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147189414 | Health Risk | Pathogenic | — |
| RS2518498625 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518499632 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518499685 | Health Risk | Pathogenic | — |
| RS2518499712 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518499772 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518505616 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518505642 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS2518505720 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518507652 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518508012 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2519339796 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS398123300 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231184 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231186 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231187 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231189 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase complex deficiency |
| RS606231190 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231191 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224146 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224147 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, SUDDEN INFANT DEATH SYNDROME, Pyruvate dehydrogenase complex deficiency |
| RS863224149 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224150 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224153 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224155 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224156 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224157 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS886039690 | Health Risk | Pathogenic | Thyroid cancer, nonmedullary, 1 |
| RS886041793 | Health Risk | Pathogenic | — |
| RS1057521993 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1064794149 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS121917898 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853250 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, See cases, Inborn genetic diseases |
| RS137853254 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853257 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555933963 | Health Risk | Pathogenic/Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency |