MLKL Chromosome 16

Mixed lineage kinase domain like pseudokinase
3 variants 3 Health Risk

Upload your DNA to see your personal genotypes for variants in MLKL.

What This Gene Does
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. 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 by RefSeq, Sep 2015]
Associated Conditions (2)
Chronic multifocal osteomyelitis
Biotinidase deficiency
Key Variants
All Variants (3)
RSID Category Clinical Significance Conditions
RS34515646 Health Risk association Chronic multifocal osteomyelitis, Chronic multifocal osteomyelitis
RS35589326 Health Risk association Chronic multifocal osteomyelitis, Chronic multifocal osteomyelitis
RS1186283623 Health Risk Conflicting classifications of pathogenicity Biotinidase deficiency, Biotinidase deficiency
Sign Up to Analyze Your DNA Log In