CHUK component of inhibitor of nuclear factor kappa B kinase complex
Gene ID: 1147, updated on 2-Nov-2024Gene type: protein coding
Also known as: BPS2; IKK1; IKKA; IKBKA; IKK-1; TCF16; NFKBIKA; IKK-alpha
- See all available tests in GTR for this gene
- Go to complete Gene record for CHUK
- Go to Variation Viewer for CHUK variants
Summary
This gene encodes a member of the serine/threonine protein kinase family. The encoded protein, a component of a cytokine-activated protein complex that is an inhibitor of the essential transcription factor NF-kappa-B complex, phosphorylates sites that trigger the degradation of the inhibitor via the ubiquination pathway, thereby activating the transcription factor. [provided by RefSeq, Jul 2008]
Associated conditions
See all available tests in GTR for this gene
| Description | Tests |
|---|---|
| Bartsocas-Papas syndrome 2 | See labs |
| Cocoon syndrome | See labs |
| Population-based genome-wide association studies reveal six loci influencing plasma levels of liver enzymes. GeneReviews: Not available |
Genomic context
- Location:
- 10q24.31
- Sequence:
- Chromosome: 10; NC_000010.11 (100186319..100229596, complement)
- Total number of exons:
- 24
Variation
| Resource | Links for this gene |
|---|---|
| ClinVar | Variants reported to ClinVar |
| dbVar | Studies and variants |
| SNP | Variation Viewer for CHUK 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
- 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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