MYL7: Myosin Light Chain 7
Cardiac Myosin Regulatory Light Chain
Gene Information Card
| Symbol | MYL7 |
|---|---|
| Full Name | myosin light chain 7 |
| Gene Type | protein-coding |
| Chromosomal Location | 7p22.3 |
| NCBI Gene ID | 58498 ncbi.nlm.nih.gov/gene/58498 |
| Ensembl ID | ENSG00000106631 |
| UniProt ID | Q01449 |
| OMIM ID | 160781 |
| HGNC ID | 7584 |
| Aliases | MYLC2A, MLC-2a, MLC2a, MLC2A |
Description
MYL7 (myosin light chain 7) encodes the cardiac myosin regulatory light chain, a component of the myosin complex in cardiac muscle. It is specifically expressed in the atria and plays a critical role in regulating cardiac muscle contraction through calcium binding and phosphorylation. Mutations in MYL7 are associated with atrial cardiomyopathy and other cardiac disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Atrial cardiomyopathy | Altered calcium binding and contractility due to MYL7 mutations | ClinVar |
| Hypertrophic cardiomyopathy | Potential disruption of myosin regulatory function | ClinVar |
| Dilated cardiomyopathy | Impaired cardiac contractility linked to MYL7 variants | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 58.2 | High |
| Skeletal muscle | 0.8 | Low |
| Liver | 0.1 | Not detected |
| Brain | 0.1 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | 58.2 | Atrial-specific expression |
| HeLa | 0.1 | Not expressed |
| HEK293 | 0.1 | Not expressed |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.64G>A (p.Glu22Lys) | Missense | Rare | Altered calcium binding affinity |
| c.97C>T (p.Arg33Cys) | Missense | Rare | Impaired phosphorylation regulation |
| c.148G>A (p.Glu50Lys) | Missense | Rare | Reduced myosin ATPase activity |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations reduce calcium binding or phosphorylation, impairing cardiac contractility.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
Dominant-negative effects may occur via disrupted myosin complex assembly.
View complete mutation data：
Gene Ontology (GO)
| • calcium ion binding | • myosin complex |
| • cardiac muscle contraction | • actin binding |
| • calmodulin binding |
Pathways
• Cardiac muscle contraction
• Myosin regulatory pathway
• Calcium signaling in cardiomyocytes
Protein Summary
MYL7 encodes the 175-amino-acid cardiac myosin regulatory light chain (MLC-2a), which binds calcium and regulates myosin ATPase activity in atrial muscle. It is essential for normal heart function and is implicated in atrial cardiomyopathy.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL7 Knockout HEK293 Cell Line | EDJ-KQ13571 | Human | 58498 | Details Get a Quote |
| MYL7 Knockout HeLa Cell Line | EDJ-KQ56942 | Human | 58498 | Details Get a Quote |
| MYL7 Knockout A-549 Cell Line | EDJ-KQ65448 | Human | 58498 | Details Get a Quote |
| MYL7 Knockout HCT 116 Cell Line | EDJ-KQ73885 | Human | 58498 | Details Get a Quote |
