Alpha Kinase 1 T237M Mutant (ALPK1 T237M)

The Alpha Kinase 1 T237M mutant (ALPK1 T237M) is a gain-of-function mutation of the ALPK1 protein, where threonine at position 237 is replaced by methionine. This mutation leads to constitutive activation of the NF-κB signaling pathway, even in the absence of the canonical bacterial ligand ADP-heptose. The mutant protein also exhibits altered ligand specificity responding abnormally to endogenous nucleotide sugars. This results in increased production of pro-inflammatory cytokines and is associated with ROSAH syndrome.

Other names

ALPK1 (T237M)ALPK1-T237MALPK1 with Threonine to Methionine substitution at position 237

Constitutive activation of NF-κB signaling pathway via TIFA-dependent activation in the absence of its canonical ligand. Aberrant recognition of endogenous nucleotide sugars.