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Impact of G167R mutation in CHUK gene, coding for IKKα protein, on gene expression in PBMCs

GSE256535 Homo sapiens Expression profiling by high throughput sequencing 5 samples Submitted 2024/10/09 Platform GPL24676
Summary
IKKα is a critical regulator of the non-canonical NF-KB signalling pathway. In patients with combined immunodeficiency, we identified a homozygous missense mutation in CHUK gene, coding for IKKα protein, leading to G167R amino acid change in the kinase domain of the protein. This mutation impairs the kinase activity of IKKα, which results in a range of aberratins in innate and adaptive immunity.
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Also filed as BioProject PRJNA1080009 and SRA study SRP491504. Searching any of these in the dataset finder brings you back here.

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