MYL3 Gene - Myosin Light Chain 3
Essential sarcomeric protein in cardiac muscle contraction and hypertrophic cardiomyopathy
Gene Information Card
| Symbol | MYL3 |
|---|---|
| Full Name | myosin light chain 3 |
| Gene Type | protein-coding |
| Chromosomal Location | 3p21.31 |
| NCBI Gene ID | 4634 ncbi.nlm.nih.gov/gene/4634 |
| Ensembl ID | ENSG00000160808 |
| UniProt ID | P08590 |
| OMIM ID | 160790 |
| HGNC ID | 7584 |
| Aliases | MLC1V, MLC1SB, VLC1, MLC-1v, MLC1EM |
Description
MYL3 encodes the myosin light chain 3, a ventricular/slow skeletal muscle isoform of the myosin alkali light chain. This protein is a component of the sarcomere, essential for cardiac and slow-twitch skeletal muscle contraction. Mutations in MYL3 are associated with hypertrophic cardiomyopathy (HCM) and other myopathies.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy (HCM) | Missense mutations disrupt sarcomere assembly and calcium sensitivity, leading to myocardial hypertrophy | ClinVar, OMIM |
| Restrictive Cardiomyopathy (RCM) | Altered myosin light chain function impairs diastolic relaxation | ClinVar |
| Distal Myopathy | Rare mutations affect skeletal muscle contractility | OMIM |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Skeletal Muscle | 42.1 | High |
| Esophagus | 3.5 | Low |
| Adipose Tissue | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPS-derived) | 62.0 | High expression |
| Skeletal muscle myoblasts | 38.5 | Moderate expression |
| HEK293 | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.170C>T (p.Ala57Val) | Missense | Rare | Associated with HCM; alters actin binding |
| c.404G>A (p.Arg135Gln) | Missense | Rare | Associated with HCM; disrupts light chain interaction |
| c.485T>C (p.Met162Thr) | Missense | Rare | Reported in RCM; affects calcium sensitivity |
Mutation functional classification
Loss of Function (LOF)
Not commonly reported; most MYL3 mutations are missense with altered function rather than complete loss.
Gain of Function (GOF)
Some mutations increase calcium sensitivity, leading to hypercontractility in HCM.
Dominant Negative (DN)
Mutant MYL3 proteins interfere with wild-type sarcomere assembly, causing dominant-negative effects.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
Myosin light chain 3 (MLC-1v) is a 195-amino acid protein with three EF-hand domains that bind calcium and regulate myosin ATPase activity. It is predominantly expressed in cardiac and slow skeletal muscle, where it stabilizes the myosin head and modulates contraction. Mutations in MYL3 are a known cause of hypertrophic cardiomyopathy (HCM) and restrictive cardiomyopathy (RCM).
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL3 Knockout HEK293 Cell Line | EDJ-KQ1439 | Human | 4634 | Details Get a Quote |
| MYL3 Knockout HeLa Cell Line | EDJ-KQ53947 | Human | 4634 | Details Get a Quote |
| MYL3 Knockout A-549 Cell Line | EDJ-KQ62440 | Human | 4634 | Details Get a Quote |
| MYL3 Knockout HCT 116 Cell Line | EDJ-KQ70905 | Human | 4634 | Details Get a Quote |
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