CHUK Chromosome 10
Component of inhibitor of nuclear factor kappa B kinase complex
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What This Gene Does
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]
Gene Info
Gene Group
"I kappa B kinase family|IKK complex"
Locus Type
gene with protein product
Location
10q24.31
Ensembl
ENSG00000213341
Associated Conditions (3)
Inborn genetic diseases
Bartsocas-Papas syndrome 2
Cocoon syndrome
Key Variants
RS766454749
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2134222531
Pathogenic
Health Risk
RS2134229666
Pathogenic
Bartsocas-Papas syndrome 2, Bartsocas-Papas syndrome 2
Health Risk
RS267606736
Pathogenic
Cocoon syndrome, Cocoon syndrome
Health Risk
RS769592752
Pathogenic
Health Risk
All Variants (5)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS766454749 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS2134222531 | Health Risk | Pathogenic | — |
| RS2134229666 | Health Risk | Pathogenic | Bartsocas-Papas syndrome 2, Bartsocas-Papas syndrome 2 |
| RS267606736 | Health Risk | Pathogenic | Cocoon syndrome, Cocoon syndrome |
| RS769592752 | Health Risk | Pathogenic | — |