MLKL Chromosome 16
Mixed lineage kinase domain like pseudokinase
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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
RS34515646
association
Chronic multifocal osteomyelitis, Chronic multifocal osteomyelitis
Health Risk
RS35589326
association
Chronic multifocal osteomyelitis, Chronic multifocal osteomyelitis
Health Risk
RS1186283623
Conflicting classifications of pathogenicity
Biotinidase deficiency, Biotinidase deficiency
Health Risk
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 |