IDH3B

isocitrate dehydrogenase (NAD(+)) 3 non-catalytic subunit beta

Tier: Cilia-Associated Genes

Ensembl:
ENSG00000101365
UniProt:
O43837
OMIM:
604526
Synonyms:
RP46

Ciliogenesis screen results (4 screens)

  • Kim2016: Not Reported
  • Wheway et al. 2015 (siRNA) [siRNA]: Ciliogenesis Defect (z=-2.15) 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:
impaired righting response, hyperactivity, increased vertical activity, limb grasping
Human ciliopathy phenotype:
retinitis pigmentosa

Subcellular localization

mitochondria, nucleus

Functional category

  • Ciliary assembly/disassembly

Function

Mutations in the IDH3B gene cause Retinitis Pigmentosa (PMID: 31736247).