PDHA2

Chr 4AR

pyruvate dehydrogenase E1 subunit alpha 2

Also known as: PDHAL, SPGF70

NCBI Gene: 5161 ENSG00000163114 UniProt: P29803 OMIM: 179061

This protein forms part of the E1 subunit of the testis-specific pyruvate dehydrogenase complex, which catalyzes the conversion of pyruvate to acetyl-CoA and links glycolysis to the mitochondrial tricarboxylic acid cycle. Mutations cause spermatogenic failure 70, an autosomal recessive condition affecting male fertility. The gene shows low constraint to loss-of-function variants (pLI near zero, LOEUF 1.77), consistent with its tissue-specific expression and reproductive phenotype.

OMIM ResearchSummary from RefSeq, OMIM, UniProt

Enables pyruvate dehydrogenase (acetyl-transferring) activity. Involved in pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion. Part of pyruvate dehydrogenase complex. Implicated in spermatogenic failure 70. [provided by Alliance of Genome Resources, Jun 2026]

OMIM ResearchGenerating clinical summary…