IKBKG Chromosome X
Inhibitor of nuclear factor kappa B kinase regulatory subunit gamma
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What This Gene Does
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]
Gene Info
Gene Group
"IKK complex|Zinc fingers C2HC NEMO-type"
Locus Type
gene with protein product
Location
Xq28
Ensembl
ENSG00000269335
Associated Conditions (11)
Incontinentia pigmenti syndrome
Inborn genetic diseases
Ectodermal dysplasia and immunodeficiency 1
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1
MALE-RESTRICTED
Immunodeficiency 33
IMMUNODEFICIENCY 33
IKBKG-related disorder
NEMO deleted exon 5-autoinflammatory syndrome (NEMO-NDAS)
Autoinflammatory disease
X-linked
Key Variants
RS137853322
Conflicting classifications of pathogenicity
Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome
Health Risk
RS202220072
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS386134241
Conflicting classifications of pathogenicity
Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
Health Risk
RS5945206
Conflicting classifications of pathogenicity
Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
Health Risk
RS782406063
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS782604431
Conflicting classifications of pathogenicity
Ectodermal dysplasia and immunodeficiency 1, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 1
Health Risk
RS1057520292
Likely pathogenic
Health Risk
RS137853327
Likely pathogenic
ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED, Incontinentia pigmenti syndrome
Health Risk
RS137853331
Likely pathogenic
Immunodeficiency 33, Immunodeficiency 33
Health Risk
RS1557236796
Likely pathogenic
Incontinentia pigmenti syndrome, ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED
Health Risk
RS1557236929
Likely pathogenic
Health Risk
RS1569556603
Likely pathogenic
Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1
Health Risk
All Variants (69)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS137853322 | Health Risk | Conflicting classifications of pathogenicity | Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS202220072 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS386134241 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS5945206 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS782406063 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS782604431 | Health Risk | Conflicting classifications of pathogenicity | Ectodermal dysplasia and immunodeficiency 1, Inborn genetic diseases, Ectodermal dysplasia and immunodeficiency 1 |
| RS1057520292 | Health Risk | Likely pathogenic | — |
| RS137853327 | Health Risk | Likely pathogenic | ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED, Incontinentia pigmenti syndrome |
| RS137853331 | Health Risk | Likely pathogenic | Immunodeficiency 33, Immunodeficiency 33 |
| RS1557236796 | Health Risk | Likely pathogenic | Incontinentia pigmenti syndrome, ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED |
| RS1557236929 | Health Risk | Likely pathogenic | — |
| RS1569556603 | Health Risk | Likely pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS179363867 | Health Risk | Likely pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS179363869 | Health Risk | Likely pathogenic | — |
| RS2148368738 | Health Risk | Likely pathogenic | Immunodeficiency 33, Immunodeficiency 33 |
| RS2148385082 | Health Risk | Likely pathogenic | — |
| RS2148385109 | Health Risk | Likely pathogenic | — |
| RS2148386073 | Health Risk | Likely pathogenic | — |
| RS2523365593 | Health Risk | Likely pathogenic | — |
| RS2523366018 | Health Risk | Likely pathogenic | Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS2523375507 | Health Risk | Likely pathogenic | — |
| RS2523379864 | Health Risk | Likely pathogenic | — |
| RS386134238 | Health Risk | Likely pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS386134240 | Health Risk | Likely pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS1057517746 | Health Risk | Pathogenic | — |
| RS1057517874 | Health Risk | Pathogenic | — |
| RS1057521138 | Health Risk | Pathogenic | — |
| RS1064793564 | Health Risk | Pathogenic | — |
| RS1064794135 | Health Risk | Pathogenic | — |
| RS1064794340 | Health Risk | Pathogenic | — |
| RS1085307883 | Health Risk | Pathogenic | — |
| RS1156900338 | Health Risk | Pathogenic | — |
| RS1237384577 | Health Risk | Pathogenic | — |
| RS137853321 | Health Risk | Pathogenic | Incontinentia pigmenti syndrome, ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED |
| RS137853323 | Health Risk | Pathogenic | Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS137853324 | Health Risk | Pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS137853325 | Health Risk | Pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS137853326 | Health Risk | Pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS137853328 | Health Risk | Pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS137853329 | Health Risk | Pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS137853330 | Health Risk | Pathogenic | Ectodermal dysplasia and immunodeficiency 1, Ectodermal dysplasia and immunodeficiency 1 |
| RS137853332 | Health Risk | Pathogenic | Immunodeficiency 33, Immunodeficiency 33 |
| RS1557236015 | Health Risk | Pathogenic | — |
| RS1557236445 | Health Risk | Pathogenic | Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |
| RS1557236517 | Health Risk | Pathogenic | — |
| RS1557236565 | Health Risk | Pathogenic | — |
| RS1557236571 | Health Risk | Pathogenic | — |
| RS1557236795 | Health Risk | Pathogenic | — |
| RS1569556522 | Health Risk | Pathogenic | Immunodeficiency 33, Immunodeficiency 33 |
| RS1569556615 | Health Risk | Pathogenic | Incontinentia pigmenti syndrome, Incontinentia pigmenti syndrome |