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PDHA1

Gene

pyruvate dehydrogenase E1 subunit alpha 1

HGNCHGNC:8806EnsemblENSG00000131828NCBI Gene5160
Locus: gene with protein productLocation: Xp22.12

Also known as

Symbols and names change; identity (the HGNC ID) does not. Previous and alternative forms are kept distinct.

Also known asPDHA · E1alpha
View full nomenclature history (5)
Previous symbolsPDHA
Alias symbolsE1alpha
Previous namespyruvate dehydrogenase (lipoamide) alpha 1, pyruvate dehydrogenase alpha 1
Alias namespyruvate dehydrogenase E1 component subunit alpha, somatic form, mitochondrial

Associated diseases

via associated_with

Diseases linked to this gene through the canonical GENE→DISEASE (associated_with) relation, drawn from Open Targets' top-ranked associations by overall score — not the full association set. Disease-level detail lives on each disease's own page.

Genetic Diseases, Inborn
Mitochondrial Diseases
Sudden infant death syndrome

Drawn from Open Targets’ top 10 associations by overall score for this gene — the subset resolved to a canonical disease. Lower-ranked associations, and diseases not yet canonicalised, are not shown.

Gene family

HGNC gene-group membership.

Pyruvate dehydrogenase complex subunits

Provenance

HGNCCanonical human gene identity from HGNC (release 2026-07-07), updated 2023-01-20.
Open TargetsGene–disease associations from the Open Targets Platform.