NFKBIA - morinlab/LLMPP GitHub Wiki

bibliography: 'morinlab.bib' csl: 'NLM.csl' link-citations: true nocite: | @wienandGenomicAnalysesFlowsorted2019, @lakeMutationsNFKBIAEncoding2009, @russler-germainMutationsAssociatedProgression2023,

Overview

NFKBIA encodes IκBα, an inhibitor of NF-κB, which regulates the NF-κB signaling pathway by preventing the translocation of NF-κB to the nucleus. Mutations in NFKBIA can disrupt this regulation, leading to constitutive activation of NF-κB signaling, which has an important role in a subset of DLBCLs. Mutations and deletions in NFKBIA are observed in DLBCL and are associated with constitutive activation of the NF-κB pathway. These mutations often occur in the ABC subtype and are associated with the ST2 genetic subgroup of DLBCL.[@wienandGenomicAnalysesFlowsorted2019]

Experimental Evidence

Driver mutations affecting this gene in DLBCL have been experimentally demonstrated to cause a reduction or loss of function (LOF).[@jungnickelClonalDeleteriousMutations2000]