MYLK
Chr 3ADARmyosin light chain kinase
Also known as: AAT7, KRP, MLCK, MLCK1, MLCK108, MLCK210, MMIHS, MMIHS1
Myosin light chain kinase is a calcium/calmodulin-dependent enzyme that phosphorylates myosin regulatory light chains to enable smooth muscle contraction and regulate gastrointestinal motility. Mutations cause megacystis-microcolon-intestinal hypoperistalsis syndrome with severe gastrointestinal dysmotility and familial thoracic aortic aneurysms, with both autosomal dominant and autosomal recessive inheritance patterns reported. The gene is highly constrained against loss-of-function variation (LOEUF 0.528), reflecting its essential role in smooth muscle function.
Strong evidence — appropriate for clinical testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
Predictions shown for reference only — model trained on dominant genes, not applicable to AR conditions.
The Badonyi & Marsh prediction model was trained exclusively on dominant disease genes. Predictions are not reliable for genes with autosomal recessive inheritance and are shown at reduced opacity for reference only.
Literature Evidence
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
100 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 2 | 0 | 0 | 0 | 2 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 5 | 63 | 2 | 0 | 70 |
Likely Benign | 0 | 0 | 6 | 21 | 27 |
Benign | 0 | 0 | 0 | 0 | 0 |
Conflicting | — | 1 | |||
| Total | 7 | 63 | 8 | 21 | 100 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
MYLK · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools