NFKBIA NFKB inhibitor alpha
Gene ID: 4792, updated on 5-Mar-2024Gene type: protein coding
Also known as: IKBA; MAD-3; NFKBI; EDAID2
- See all available tests in GTR for this gene
- Go to complete Gene record for NFKBIA
- Go to Variation Viewer for NFKBIA variants
Summary
This gene encodes a member of the NF-kappa-B inhibitor family, which contain multiple ankrin repeat domains. The encoded protein interacts with REL dimers to inhibit NF-kappa-B/REL complexes which are involved in inflammatory responses. The encoded protein moves between the cytoplasm and the nucleus via a nuclear localization signal and CRM1-mediated nuclear export. Mutations in this gene have been found in ectodermal dysplasia anhidrotic with T-cell immunodeficiency autosomal dominant disease. [provided by RefSeq, Aug 2011]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. GeneReviews: Not available | |
| Ectodermal dysplasia and immunodeficiency 2 | See labs |
| Genome-wide association analysis identifies three psoriasis susceptibility loci. GeneReviews: Not available |
Genomic context
- Location:
- 14q13.2
- Sequence:
- Chromosome: 14; NC_000014.9 (35401513..35404749, complement)
- Total number of exons:
- 6
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for NFKBIA variants |
| Genome viewer | Explore NCBI-annotated and select non-NCBI annotated genome assemblies |
- ClinVarRelated medical variations
- dbVarLink from Gene to dbVar
- MedGenRelated information in MedGen
- NFKBIA database
- NFKBIAbase: Mutation registry for Autosomal dominant anhidrotic ectodermal dysplasia and T-cell immunodeficiency
- OMIMLink to related OMIM entry
- PubMed (OMIM)Gene links to PubMed derived from omim_pubmed_cited links
- RefSeq RNAsLink to Nucleotide RefSeq RNAs
- RefSeqGeneLink to Nucleotide RefSeqGenes
- Variation ViewerRelated Variants
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