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 |
|---|---|---|---|
| RS2147180839 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147180851 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147184502 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147184540 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147189158 | Health Risk | Likely pathogenic | — |
| RS2147189180 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2147189334 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518497064 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518498635 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518507871 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518507983 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2518508076 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2519339591 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2519339692 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2519339792 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2519341308 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS606231185 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS773139249 | Health Risk | Likely pathogenic | — |
| RS863224145 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS863224148 | Health Risk | Likely pathogenic | Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency, Abnormality of the mitochondrion |
| RS863224151 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS886042089 | Health Risk | Likely pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1057518173 | Health Risk | Pathogenic | — |
| RS1131691584 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1131691792 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853251 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853252 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases, PDHA1-related disorder |
| RS137853253 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853255 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853258 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, PDHA1-related disorder, Pyruvate dehydrogenase E1-alpha deficiency |
| RS137853259 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Inborn genetic diseases |
| RS1555934336 | Health Risk | Pathogenic | Inborn genetic diseases, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555934376 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1555934843 | Health Risk | Pathogenic | Inborn genetic diseases, Thyroid cancer, nonmedullary |
| RS1555935197 | Health Risk | Pathogenic | — |
| RS1555935216 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935473 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1555935690 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1569189834 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1569190079 | Health Risk | Pathogenic | Pyruvate dehydrogenase complex deficiency, Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase complex deficiency |
| RS1569190962 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1569191372 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1569191659 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1569194036 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602227631 | Health Risk | Pathogenic | — |
| RS1602227643 | Health Risk | Pathogenic | — |
| RS1602228017 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS1602231539 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |
| RS2063162114 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Thyroid cancer, nonmedullary |
| RS2063189233 | Health Risk | Pathogenic | Pyruvate dehydrogenase E1-alpha deficiency, Pyruvate dehydrogenase E1-alpha deficiency |