IKBKG
Chr XX-linkedXLRXLDinhibitor of nuclear factor kappa B kinase regulatory subunit gamma
Also known as: AMCBX1, EDAID1, FIP-3, FIP3, Fip3p, IKK-gamma, IKKAP1, IKKG
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.
Definitive — sufficient evidence for diagnostic panels
2 total gene-disease associations curated
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
300 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 21 | 2 | 87 | 0 | 110 |
Likely Pathogenic | 8 | 9 | 5 | 0 | 22 |
VUS | 2 | 64 | 25 | 3 | 94 |
Likely Benign | 0 | 4 | 14 | 15 | 33 |
Benign | 0 | 1 | 12 | 1 | 14 |
Conflicting | — | 4 | |||
| Total | 31 | 80 | 143 | 19 | 277 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
IKBKG · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools