IKBKG

Chr XX-linkedXLRXLD

inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Also known as: AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG

NCBI Gene: 8517 ENSG00000269335 UniProt: Q9Y6K9 OMIM: 300248

This gene encodes the regulatory subunit of the IKK complex that phosphorylates inhibitors of NF-kappaB, leading to NF-kappaB activation and downstream regulation of inflammation, immunity, and cell survival pathways. X-linked mutations cause incontinentia pigmenti, hypohidrotic ectodermal dysplasia with immunodeficiency, primary immunodeficiencies, and systemic autoinflammatory disease through disrupted NF-kappaB signaling. Inheritance patterns include both X-linked dominant (incontinentia pigmenti) and X-linked recessive forms depending on the specific condition.

GeneReviews OMIM ResearchSummary from RefSeq, OMIM, UniProt, Mechanism

This gene encodes the regulatory subunit of the inhibitor of kappaB kinase (IKK) complex, which activates NF-kappaB resulting in activation of genes involved in inflammation, immunity, cell survival, and other pathways. Mutations in this gene result in incontinentia pigmenti, hypohidrotic ectodermal dysplasia, and several other types of immunodeficiencies. A pseudogene highly similar to this locus is located in an adjacent region of the X chromosome. [provided by RefSeq, Mar 2016]

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Autoinflammatory disease, systemic, X-linkedMIM #301081

X-linked

Ectodermal dysplasia and immunodeficiency 1MIM #300291

XLR

Immunodeficiency 33MIM #300636

XLR

Incontinentia pigmentiMIM #308300

XLD

Clinical highlights

Gene-disease validity (ClinGen)

incontinentia pigmenti · XLDefinitivesufficient evidence for diagnostic panels2 gene-disease associations curated in total

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.37

LOEUF

LOF*

Mechanism· G2P

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GeneReview available — IKBKG