GABRA3

gamma-aminobutyric acid type A receptor subunit alpha3

Ensembl:
ENSG00000011677
UniProt:
P34903
OMIM:
305660

Cilia effects upon perturbation of GABRA3

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

Ciliopathy associations

  • Juvenile Myoclonic Epilepsy

Subcellular localization

nucleoplasm, plasma membrane

Function

Mutations in GABRA3 cause Juvenile Myoclonic Epilepsy (PMID: 39616287).