PDHA2

pyruvate dehydrogenase E1 subunit alpha 2

Ensembl:
ENSG00000163114
UniProt:
P29803
OMIM:
179061
Synonyms:
PDHAL

Cilia effects upon perturbation of PDHA2

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: No effect PMID:26167766
  • Breslow et al. 2018 (CRISPR) [CRISPR]: No Significant Effect PMID:29459680
  • Roosing et al. 2015 (siRNA) [siRNA]: No effect PMID:26595381

Phenotypes

Mouse phenotype:
abnormal spleen morphology

Ciliopathy associations

  • Male Infertility

Subcellular localization

mitochondria

Functional category

  • Motile cilium & axoneme

Function

Mutations in PDHA2 cause Male infertility (PMID: 35207567).