MYL11: Myosin Light Chain 11
A sarcomeric myosin alkali light chain associated with skeletal muscle development and disease
Gene Information Card
| Symbol | MYL11 |
|---|---|
| Full Name | myosin light chain 11 |
| Gene Type | protein-coding |
| Chromosomal Location | 16p11.2 |
| NCBI Gene ID | 29895 ncbi.nlm.nih.gov/gene/29895 |
| Ensembl ID | ENSG00000172292 |
| UniProt ID | Q9H1J7 |
| OMIM ID | 617378 |
| HGNC ID | 29895 |
| Aliases | MYL11, MLC11, MYL11A, MYL11B |
Description
MYL11 encodes a myosin alkali light chain expressed predominantly in skeletal muscle. It is a component of the sarcomeric myosin complex, essential for muscle contraction and force generation. Mutations in MYL11 are associated with congenital myopathies and distal arthrogryposis.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Distal arthrogryposis type 2B | Missense mutations in MYL11 disrupt myosin light chain function, impairing muscle contraction and leading to joint contractures. | ClinVar, OMIM |
| Congenital myopathy with fiber-type disproportion | Loss-of-function variants reduce myosin complex stability, causing muscle weakness and hypotonia. | ClinVar, OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 78.5 | High |
| Heart | 12.3 | Medium |
| Esophagus | 5.1 | Low |
| Thyroid | 1.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 45.2 | High expression in differentiated myotubes |
| Cardiomyocytes | 8.7 | Moderate expression |
| Fibroblasts | 0.3 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.473G>A (p.Arg158His) | Missense | Rare | Alters actin-binding affinity, associated with distal arthrogryposis |
| c.1A>G (p.Met1?) | Start loss | Very rare | Loss of protein expression, linked to congenital myopathy |
Mutation functional classification
Loss of Function (LOF)
Start-loss and nonsense mutations lead to truncated or absent MYL11 protein, impairing sarcomere assembly.
Gain of Function (GOF)
Not reported for MYL11.
Dominant Negative (DN)
Missense mutations (e.g., p.Arg158His) produce defective light chains that interfere with wild-type myosin function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding (GO:0003779) | • ATP binding (GO:0005524) |
| • structural constituent of muscle (GO:0008307) | • myosin filament (GO:0032982) |
| • muscle contraction (GO:0006936) |
Pathways
• R-HSA-390522: Striated Muscle Contraction
• R-HSA-397014: Muscle contraction
Protein Summary
MYL11 is a 196-amino-acid myosin alkali light chain (MLC11) that binds to the myosin heavy chain head domain. It stabilizes the myosin lever arm and modulates actin-activated ATPase activity. The protein is essential for normal skeletal muscle contraction and is highly expressed in adult skeletal muscle.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL11 Knockout HEK293 Cell Line | EDJ-KQ14341 | Human | 29895 | Details Get a Quote |
| MYL11 Knockout HeLa Cell Line | EDJ-KQ44455 | Human | 29895 | Details Get a Quote |
| MYL11 Knockout A-549 Cell Line | EDJ-KQ64603 | Human | 29895 | Details Get a Quote |
| MYL11 Knockout HCT 116 Cell Line | EDJ-KQ73054 | Human | 29895 | Details Get a Quote |
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