IKBKG

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Tier: Cilia-Associated Genes

Ensembl:: ENSG00000269335
UniProt:: Q9Y6K9
OMIM:: 300248
Synonyms:: FIP-3, FIP3, FIP3P, IKK-GAMMA, IKKAP1, IKKG, IP1, IP2, NEMO, ZC2HC9

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

cytosol

References: PMID:29520766

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).

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