MYL6: Myosin Light Chain 6
A key component of the myosin complex involved in muscle contraction and cellular motility
Gene Information Card
| Symbol | MYL6 |
|---|---|
| Full Name | myosin light chain 6 |
| Gene Type | protein-coding |
| Chromosomal Location | 12q13.2 |
| NCBI Gene ID | 4637 ncbi.nlm.nih.gov/gene/4637 |
| Ensembl ID | ENSG00000111206 |
| UniProt ID | P60660 |
| OMIM ID | 160780 |
| HGNC ID | 7585 |
| Aliases | LC17, MLC-3, MLC3, MYL6B |
Description
MYL6 encodes a myosin light chain (MLC) that is a component of the hexameric myosin complex. It is expressed in both smooth muscle and non-muscle cells, where it regulates actin-activated ATPase activity and contributes to cell contractility, cytokinesis, and vesicle transport. Alternative splicing generates isoforms with distinct functional properties.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Cardiomyopathy, dilated | Altered myosin complex stability and contractile function | ClinVar; OMIM |
| Cancer (multiple types) | Overexpression linked to tumor invasion and metastasis | COSMIC; NCBI |
| Hearing loss | Mutation in MYL6 disrupts stereocilia function in cochlear hair cells | OMIM; ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 78.5 | High |
| Heart | 62.3 | High |
| Smooth muscle (colon) | 45.1 | Medium |
| Brain | 22.8 | Medium |
| Liver | 8.4 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HeLa | 35.2 | Cervical cancer cell line |
| A549 | 28.7 | Lung adenocarcinoma |
| MCF7 | 19.4 | Breast cancer |
| HEK293 | 15.6 | Embryonic kidney |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.97C>T (p.Arg33Trp) | Missense | 0.001% | Reduced actin binding affinity |
| c.205G>A (p.Glu69Lys) | Missense | 0.002% | Altered ATPase activity |
| c.358_360del (p.Lys120del) | Deletion | 0.0005% | Loss of function in muscle contraction |
Mutation functional classification
Loss of Function (LOF)
Deletions or nonsense mutations that truncate the protein or disrupt the EF-hand calcium-binding domain impair myosin complex assembly and contractile function.
Gain of Function (GOF)
Missense mutations that increase actin-activated ATPase activity have been reported in some cancers, promoting cell motility and invasion.
Dominant Negative (DN)
Mutations affecting the myosin light chain binding interface can disrupt the hexameric myosin complex, leading to dominant-negative effects on muscle contraction.
View complete mutation data：
Gene Ontology (GO)
| • motor activity (GO:0003774) | • calmodulin binding (GO:0005516) |
| • ATP binding (GO:0005524) | • muscle contraction (GO:0006936) |
| • myosin complex (GO:0016459) | • muscle filament sliding (GO:0030049) |
Pathways
• Reactome: Smooth Muscle Contraction (R-HSA-445355)
• Reactome: Myosin Light Chain Phosphorylation (R-HSA-392154)
• KEGG: Vascular smooth muscle contraction (hsa04270)
• KEGG: Tight junction (hsa04530)
Protein Summary
Myosin light chain 6 (MYL6) is a 17 kDa protein that belongs to the EF-hand superfamily. It contains two calcium-binding domains and associates with the myosin heavy chain to form the functional myosin complex. Phosphorylation of MYL6 by myosin light chain kinase (MLCK) regulates actin-activated ATPase activity and is critical for smooth muscle contraction, cell migration, and cytokinesis. Isoforms differ in tissue distribution and regulatory properties.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL6 Knockout HEK293 Cell Line | EDJ-KQ5287 | Human | 4637 | Details Get a Quote |
| MYL6B Knockout HEK293 Cell Line | EDJ-KQ9767 | Human | 140465 | Details Get a Quote |
| MYL6 Knockout A-549 Cell Line | EDJ-KQ28325 | Human | 4637 | Details Get a Quote |
| MYL6 Knockout HCT 116 Cell Line | EDJ-KQ28326 | Human | 4637 | Details Get a Quote |
| MYL6 Knockout HeLa Cell Line | EDJ-KQ28327 | Human | 4637 | Details Get a Quote |
| MYL6B Knockout A-549 Cell Line | EDJ-KQ36604 | Human | 140465 | Details Get a Quote |
| MYL6B Knockout HCT 116 Cell Line | EDJ-KQ36605 | Human | 140465 | Details Get a Quote |
| MYL6B Knockout HeLa Cell Line | EDJ-KQ36606 | Human | 140465 | Details Get a Quote |
