IDH3A

isocitrate dehydrogenase (NAD(+)) 3 catalytic subunit alpha

Ensembl:
ENSG00000166411
UniProt:
P50213
OMIM:
601149

Cilia effects upon perturbation of IDH3A

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:
embryonic lethality prior to organogenesis, preweaning lethality, complete penetrance, embryonic lethality prior to tooth bud stage
Human ciliopathy phenotype:
retinitis pigmentosa 90

Subcellular localization

cilia associated gene, mitochondria, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the IDH3A gene cause Retinitis Pigmentosa (PMID: 28412069, 31012789).