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GeneE
25 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PDHA1
pyruvate dehydrogenase E1 subunit alpha 1
Chromosome X Β· Xp22.12
NCBI Gene: 5160Ensembl: ENSG00000131828.15HGNC: HGNC:8806UniProt: P08559
231PubMed Papers
21Diseases
0Drugs
395Pathogenic Variants
FUNCTIONAL ROLE
Highly Constrained
RESEARCH IMPACT
TrendingVariant-Rich
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
pyruvate dehydrogenase (acetyl-transferring) activityprotein bindingpyruvate decarboxylation to acetyl-CoAmitochondrionpyruvate dehydrogenase E1-alpha deficiencyLeigh syndromepyruvate dehydrogenase deficiencygenetic disorder
✦AI Summary

PDHA1 encodes the alpha-1 subunit of pyruvate dehydrogenase (PDH) E1, a critical mitochondrial enzyme that catalyzes pyruvate conversion to acetyl-CoA and CO2 12. As part of the heteromeric E1 complex with PDHB, PDHA1 performs thiamine pyrophosphate-dependent decarboxylation and reductive acetylation of lipoyl groups, linking glycolysis to the tricarboxylic acid cycle 23. PDHA1 activity is regulated through post-translational modifications; hyperacetylation impairs enzymatic function, increasing lactate production and promoting sepsis-induced kidney injury 4, while succinylation alters metabolic flux and suppresses macrophage antigen presentation in cholangiocarcinoma 5. Additionally, Pim2-mediated phosphorylation of PDHA1 enhances glycolytic reprogramming in inflammatory macrophages 6. PDHA1 mutations cause severe disease phenotypes: Leigh syndrome with the highest mortality rates among mitochondrial disorders 7, episodic ataxia presentations 8, and congenital metabolic myopathies 9. TCA cycle inhibition through PDHA1 suppression enhances anti-PD-1 immunotherapy efficacy in melanoma 10. These findings establish PDHA1 as a central metabolic hub whose dysfunction contributes to neurological, metabolic, and immune-related pathologies.

Sources cited
1
PDHA1 forms heterotetrameric E1 subunit with PDHB and catalyzes TPP-dependent decarboxylation and reductive acetylation
PMID: 17474719
2
PDH complex catalyzes pyruvate to acetyl-CoA conversion, linking glycolysis and TCA cycle
PMID: 19081061
3
E1 subunit catalyzes pyruvate decarboxylation and lipoyl group acetylation
PMID: 7782287
4
PDHA1 hyperacetylation-mediated inactivation causes lactate overproduction and sepsis-induced acute kidney injury
PMID: 37479690
5
PDHA1 succinylation alters enzyme activity and metabolic flux, affecting macrophage antigen presentation
PMID: 40180922
6
Pim2 phosphorylates PDHA1-S300 to promote glycolytic reprogramming in M1 macrophages
PMID: 40000906
7
PDHA1 mutations are frequent causes of Leigh syndrome with high mortality rates
PMID: 35094435
8
PDHA1 mutations cause episodic ataxia as manifestation of mitochondrial disorders
PMID: 37008993
9
PDHA1 mutations associated with metabolic myopathies and neuromuscular disorders
PMID: 34602496
10
PDHA1 inhibition improves anti-PD-1 immunotherapy efficacy through metabolic reprogramming
PMID: 37678921
Disease Associationsβ“˜21
pyruvate dehydrogenase E1-alpha deficiencyOpen Targets
0.86Strong
Leigh syndromeOpen Targets
0.62Moderate
pyruvate dehydrogenase deficiencyOpen Targets
0.56Moderate
genetic disorderOpen Targets
0.54Moderate
Intellectual disabilityOpen Targets
0.40Weak
mitochondrial diseaseOpen Targets
0.37Weak
Neurodevelopmental delayOpen Targets
0.34Weak
Abnormality of the mitochondrionOpen Targets
0.34Weak
sudden infant death syndromeOpen Targets
0.34Weak
neurodegenerative diseaseOpen Targets
0.27Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
Epileptic encephalopathyOpen Targets
0.12Weak
SeizureOpen Targets
0.12Weak
hepatocellular carcinomaOpen Targets
0.11Weak
neoplasmOpen Targets
0.11Weak
cancerOpen Targets
0.09Suggestive
breast cancerOpen Targets
0.09Suggestive
cholangiocarcinomaOpen Targets
0.09Suggestive
colorectal carcinomaOpen Targets
0.08Suggestive
Nijmegen breakage syndromeOpen Targets
0.08Suggestive
Pyruvate dehydrogenase E1-alpha deficiencyUniProt
Pathogenic Variants395
NM_000284.4(PDHA1):c.214C>T (p.Arg72Cys)Likely pathogenic
not provided|Inborn genetic diseases|Pyruvate dehydrogenase E1-alpha deficiency|Abnormality of the mitochondrion|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜…β˜†2021β†’ Residue 72
NM_000284.4(PDHA1):c.1132C>T (p.Arg378Cys)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|SUDDEN INFANT DEATH SYNDROME|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜…β˜†2021β†’ Residue 378
NM_000284.4(PDHA1):c.506C>T (p.Ala169Val)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜…β˜†2021β†’ Residue 169
NM_000284.4(PDHA1):c.1142_1145dup (p.Trp383fs)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided|Inborn genetic diseases|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜…β˜†2021β†’ Residue 383
NM_000284.4(PDHA1):c.910C>T (p.Arg304Ter)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜…β˜†2021β†’ Residue 304
NM_000284.4(PDHA1):c.498C>T (p.Ile166=)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 166
NM_000284.4(PDHA1):c.491A>G (p.Asn164Ser)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜†β˜†2026β†’ Residue 164
NM_000284.4(PDHA1):c.379C>T (p.Arg127Trp)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 127
NM_000284.4(PDHA1):c.733A>G (p.Arg245Gly)Likely pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Pyruvate dehydrogenase complex deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 245
NM_000284.4(PDHA1):c.650C>T (p.Pro217Leu)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 217
NM_000284.4(PDHA1):c.787C>T (p.Arg263Ter)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Inborn genetic diseases
β˜…β˜…β˜†β˜†2025β†’ Residue 263
NM_000284.4(PDHA1):c.934_940del (p.Ser312fs)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 312
NM_000284.4(PDHA1):c.483C>T (p.Tyr161=)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 161
NM_000284.4(PDHA1):c.899+2T>APathogenic
Pyruvate dehydrogenase E1-alpha deficiency|Nonpapillary renal cell carcinoma
β˜…β˜…β˜†β˜†2025
NM_000284.4(PDHA1):c.904C>T (p.Arg302Cys)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided|Inborn genetic diseases|PDHA1-related disorder
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_000284.4(PDHA1):c.832G>A (p.Gly278Arg)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 278
NM_000284.4(PDHA1):c.482A>G (p.Tyr161Cys)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 161
NM_000284.4(PDHA1):c.905G>A (p.Arg302His)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency
β˜…β˜…β˜†β˜†2025β†’ Residue 302
NM_000284.4(PDHA1):c.1149G>A (p.Trp383Ter)Pathogenic
Pyruvate dehydrogenase E1-alpha deficiency|not provided
β˜…β˜…β˜†β˜†2025β†’ Residue 383
NM_000284.4(PDHA1):c.380G>A (p.Arg127Gln)Pathogenic
not provided|Pyruvate dehydrogenase E1-alpha deficiency|Thyroid cancer, nonmedullary, 1
β˜…β˜…β˜†β˜†2025β†’ Residue 127
View on ClinVar β†—
Related Genes
PDHA2Shared pathway100%BCKDHBProtein interaction100%DBTProtein interaction100%DLSTProtein interaction100%FHProtein interaction100%IDH3AProtein interaction100%
Tissue Expression6 tissues
Heart
100%
Liver
22%
Bone Marrow
21%
Brain
18%
Lung
14%
Ovary
13%
Gene Interaction Network
Click a node to explore
PDHA1PDHA2BCKDHBDBTDLSTFHIDH3A
PROTEIN STRUCTURE
Preparing viewer…
PDB2OZL Β· 1.90 Γ… Β· X-ray
View on RCSB β†—
Constraintβ“˜
LOEUFβ“˜
0.14Highly Constrained
pLIβ“˜
1.00Intolerant
Observed/Expected LoF0.03 [0.01–0.14]
RankingsWhere PDHA1 stands among ~20K protein-coding genes
  • #1,741of 20,598
    Most Researched231 Β· top 10%
  • #141of 5,498
    Most Pathogenic Variants395 Β· top 5%
  • #180of 17,882
    Most Constrained (LOEUF)0.14 Β· top 5%
Genes detectedPDHA1
Sources retrieved25 papers
Response timeβ€”
πŸ“„ Sources
25β–Ό
1
PDHA1 hyperacetylation-mediated lactate overproduction promotes sepsis-induced acute kidney injury via Fis1 lactylation.
PMID: 37479690
Cell Death Dis Β· 2023
1.00
2
Cholangiocarcinoma PDHA1 succinylation suppresses macrophage antigen presentation via alpha-ketoglutaric acid accumulation.
PMID: 40180922
Nat Commun Β· 2025
0.90
3
Episodic Ataxias: Primary and Secondary Etiologies, Treatment, and Classification Approaches.
PMID: 37008993
Tremor Other Hyperkinet Mov (N Y) Β· 2023
0.80
4
Targeting macrophage polarization by inhibiting Pim2 alleviates inflammatory arthritis via metabolic reprogramming.
PMID: 40000906
Cell Mol Immunol Β· 2025
0.70
5
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
PMID: 27290639
J Transl Med Β· 2016
0.60