IKBKG inhibitor of nuclear factor kappa B kinase regulatory subunit gamma

Gene ID: 8517, updated on 10-Dec-2024
Gene type: protein coding
Also known as: IP; IP1; IP2; FIP3; IKKG; IPD2; NEMO; FIP-3; Fip3p; IMD33; SAIDX; AMCBX1; EDAID1; IKKAP1; ZC2HC9; IKK-gamma

Summary

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]

Associated conditions

See all available tests in GTR for this gene

Description	Tests
Anophthalmia-microphthalmia syndrome MedGen: C5680330GeneReviews: Not available	See labs
Autoinflammatory disease, X-linked MedGen: C5676885OMIM: 301081GeneReviews: Not available	See labs
Ectodermal dysplasia and immunodeficiency 1 MedGen: C1846008OMIM: 300291GeneReviews: Not available	See labs
Immunodeficiency 33 MedGen: C1970879OMIM: 300636GeneReviews: Not available	See labs
Incontinentia pigmenti syndrome MedGen: C0021171OMIM: 308300GeneReviews: Incontinentia Pigmenti	See labs

Copy number response

Description
Copy number response Triplosensitivity No evidence available (Last evaluated 2020-11-10) ClinGen Genome Curation PagePubMed Haploinsufficency Sufficient evidence for dosage pathogenicity (Last evaluated 2020-11-10) ClinGen Genome Curation PagePubMed

Genomic context

Location:: Xq28

Sequence:: Chromosome: X; NC_000023.11 (154541238..154565046)

Total number of exons:: 13

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Variation

Resource	Links for this gene
ClinVar	Variants reported to ClinVar
dbVar	Studies and variants
SNP	Variation Viewer for IKBKG variants
Genome viewer	Explore NCBI-annotated and select non-NCBI annotated genome assemblies

Links

ClinVar
Related medical variations
dbVar
Link from Gene to dbVar
IKBKG @ LOVD
IKBKGbase: Mutation registry for Nemo deficiency
MedGen
Related information in MedGen
OMIM
Link to related OMIM entry
PubMed (OMIM)
Gene links to PubMed derived from omim_pubmed_cited links
RefSeq RNAs
Link to Nucleotide RefSeq RNAs
RefSeqGene
Link to Nucleotide RefSeqGenes
Variation Viewer
Related Variants

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