Mixed lineage kinase domain like pseudokinase ( MLKL) is a protein that in humans is encoded by the MLKL gene.
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Function
This gene belongs to the protein kinase superfamily. The encoded protein contains a protein kinase-like domain; however, is thought to be inactive because it lacks several residues required for activity. This protein plays a critical role in tumor necrosis factor (TNF)-induced
necroptosis, a programmed
cell death process, via interaction with receptor-interacting protein 3 (RIP3), which is a key signaling molecule in necroptosis pathway. Inhibitor studies and knockdown of this gene inhibited TNF-induced
necrosis.
Influence in diseases
High levels of this protein and RIP3 are associated with inflammatory bowel disease in children. Alternatively spliced transcript variants have been described for this gene. provided. A unique neurodegenerative disease has been reported in association with a homozygous frameshift mutation, rs561839347, in
MLKL that causes replacement of part of the C-terminal pseudokinase domain with a 21-residue sequence of random amino acids.
See also
Further reading
