rs139726614
This variant is located in the TBK1 gene.
▶ClinVar annotation
Frontotemporal dementia and/or amyotrophic lateral sclerosis 4; TBK1-related disorder
View on ClinVar →About TBK1
The NF-kappa-B (NFKB) complex of proteins is inhibited by I-kappa-B (IKB) proteins, which inactivate NFKB by trapping it in the cytoplasm. Phosphorylation of serine residues on the IKB proteins by IKB kinases marks them for destruction via the ubiquitination pathway, thereby allowing activation and nuclear translocation of the NFKB complex. The protein encoded by this gene is similar to IKB kinases and can mediate NFKB activation in response to certain growth factors. The protein is also an important kinase for antiviral innate immunity response. [provided by RefSeq, Sep 2021]
View all TBK1 variants →Gene information from NCBI Gene. Variant classifications from ClinVar.
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