Spermatogenic failure type 70

Synonym(s)
- Testis-specific pyruvate dehydrogenase E1 alpha deficiency
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- PDHA2 / Pyruvate Dehydrogenase Alpha 2 Subunit
  4q22.3
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Pyruvate dehydrogenase E1 component subunit alpha, testis-specific form, mitochondrial
Multimer
- Pyruvate dehydrogenase complex
Pathway
- Pyruvate metabolism and Krebs cycle
Disease group(s)
- 5.1 Disorders of pyruvate metabolism