IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Ensembl:
ENSG00000269335
UniProt:
Q9Y6K9
OMIM:
300248
Synonyms:
FIP-3, FIP3, FIP3P, IKK-GAMMA, IKKAP1

Cilia effects upon perturbation of IKBKG

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

Subcellular localization

cilia associated gene, cytosol

Function

A new mutation in exon 4 of IKBKG, encoding nuclear factor-kappa B in a patient with incontinentia pigmenti identified. The patient had a severe cholestatic liver disease with features of a ciliopathy and underwent liver transplantation. A novel IKBKG mutation in a patient with incontinentia pigmenti and intrahepatic cholestasis with features of hepatic ciliopathy (PMID: 29520766).

Model organism evidence

Mus musculus (1 reference)

The dual molecular identity of vestibular kinocilia bridges structural and functional traits of primary and motile cilia.

PMIDs: 42029006

Danio rerio (1 reference)

The dual molecular identity of vestibular kinocilia bridges structural and functional traits of primary and motile cilia.

PMIDs: 42029006