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MLKL

Synonyms
hMLKL
External resources
Summary
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.

Variant counts

Variant classification counts according to ACMG guideline on all identified variants among our tested samples are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
26
Likely pathogenic
18
VUS
2,712
Likely benign
158
Benign
0

Patient phenotypes

Proportions of phenotypes among 44 patients carring pathogenic or likely pathogenic variants on MLKL gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
45.5%
Abnormality of the musculoskeletal system
31.8%
Abnormality of the eye
27.3%
Abnormality of head or neck
25%
Abnormality of the cardiovascular system
18.2%
Abnormality of limbs
15.9%
Abnormality of the ear
15.9%
Growth abnormality
13.6%
Abnormality of the integument
11.4%
Abnormality of blood and blood-forming tissues
6.8%
Abnormality of the digestive system
6.8%
Abnormality of the genitourinary system
6.8%
Abnormality of the immune system
6.8%
Abnormality of the voice
4.5%
Neoplasm
4.5%
Abnormal cellular phenotype
2.3%
Abnormality of prenatal development or birth
2.3%
Abnormality of the endocrine system
2.3%
Abnormality of the respiratory system
2.3%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%

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