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FLASH GENE
Symbol IKBKG contributors: mct/npt/pgu - updated : 14-03-2018
HGNC name inhibitor of kappa light polypeptide gene enhancer in B-cells, kinase gamma
HGNC id 5961
ASSOCIATED DISORDERS
corresponding disease(s) IP2 , OLEDAID , EDAID , IMD33
related resource IKBKGbase: Mutation registry for Nemo deficiency
Other morbid association(s)
TypeGene ModificationChromosome rearrangementProtein expressionProtein Function
constitutional       loss of function
in the adult epidermis, causing an inflammatory skin phenotype
Susceptibility
  • to mycobacteria
  • to Behçet disease
  • Variant & Polymorphism other
  • mutations impairing CD40-dependent IL-12 production linked to susceptibility to mycobacteria
  • heterozygous mutation is a cause of familial occurrence of Behçet disease in female patients
  • Candidate gene
    Marker
    Therapy target
    SystemTypeDisorderPubmed
    cancerdigestiveliver
    IKK-targeted gene therapy can be used in the treatment of hepatocellular carcinoma, a cancer that is notoriously resistant to radiation and chemotherapy
    ANIMAL & CELL MODELS