PDHA2 Chromosome 4
Pyruvate dehydrogenase E1 subunit alpha 2
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What This Gene Does
Enables pyruvate dehydrogenase (NAD+) activity and pyruvate dehydrogenase (acetyl-transferring) activity. Predicted to be involved in pyruvate decarboxylation to acetyl-CoA. Located in mitochondrion and nucleolus. Implicated in spermatogenic failure 70. [provided by Alliance of Genome Resources, Apr 2025]
Associated Conditions (3)
Oligosynaptic infertility
Azoospermia
Spermatogenic failure 70
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS200969445 | Health Risk | Pathogenic | Oligosynaptic infertility, Azoospermia, Spermatogenic failure 70 |