MYL10: Myosin Light Chain 10
A regulatory light chain of myosin involved in muscle contraction and cellular motility
Gene Information Card
| Symbol | MYL10 |
|---|---|
| Full Name | Myosin Light Chain 10 |
| Gene Type | Protein coding |
| Chromosomal Location | 7q22.1 |
| NCBI Gene ID | 93408 ncbi.nlm.nih.gov/gene/93408 |
| Ensembl ID | ENSG00000106333 |
| UniProt ID | Q9P1J6 |
| OMIM ID | 609905 |
| HGNC ID | 29815 |
| Aliases | MYL10, MLC10, MLC-2v, MYL2B |
Description
MYL10 encodes a member of the myosin light chain family, specifically a regulatory light chain (RLC) of myosin II. This protein is involved in the regulation of muscle contraction through calcium binding and phosphorylation. It is expressed predominantly in cardiac and slow-twitch skeletal muscle, and mutations have been linked to hypertrophic cardiomyopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy (HCM) | Missense mutations in MYL10 alter calcium binding and phosphorylation, impairing myosin function and leading to sarcomeric disarray | ClinVar, OMIM |
| Dilated Cardiomyopathy (DCM) | Loss-of-function variants reduce contractile force, contributing to ventricular dilation | ClinVar |
| Left Ventricular Noncompaction | MYL10 mutations disrupt cardiac development and myofibril organization | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | 12.5 | High |
| Skeletal Muscle | 8.3 | Medium |
| Esophagus | 2.1 | Low |
| Brain | 0.5 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes (iPSC-derived) | 15.2 | High expression in differentiated cells |
| Skeletal muscle myoblasts (HSMM) | 9.8 | Medium expression |
| HEK293 | 0.3 | Very low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.64G>A (p.Glu22Lys) | Missense | 0.001% | Alters calcium binding affinity, associated with HCM |
| c.149C>T (p.Thr50Met) | Missense | 0.0005% | Impairs phosphorylation, reduces contractility |
| c.403_404del (p.Lys135Glufs*12) | Frameshift | 0.0001% | Loss of function, linked to DCM |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations lead to truncated protein or nonsense-mediated decay, reducing myosin regulation.
Gain of Function (GOF)
Not reported for MYL10.
Dominant Negative (DN)
Missense mutations (e.g., Glu22Lys) produce altered RLC that interferes with wild-type myosin function in heterozygotes.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Cardiac muscle contraction (KEGG: hsa04260)
• Hypertrophic cardiomyopathy (KEGG: hsa05410)
• Dilated cardiomyopathy (KEGG: hsa05414)
Protein Summary
MYL10 encodes myosin light chain 10, a 19 kDa regulatory light chain of myosin II. It contains an EF-hand domain for calcium binding and a phosphorylation site at Thr50. The protein is essential for fine-tuning cardiac and skeletal muscle contraction. Mutations in MYL10 are associated with cardiomyopathies, particularly hypertrophic cardiomyopathy, due to disrupted calcium sensitivity and myosin ATPase activity.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYL10 Knockout HEK293 Cell Line | EDJ-KQ11230 | Human | 93408 | Details Get a Quote |
| MYL10 Knockout HeLa Cell Line | EDJ-KQ57862 | Human | 93408 | Details Get a Quote |
| MYL10 Knockout A-549 Cell Line | EDJ-KQ66358 | Human | 93408 | Details Get a Quote |
| MYL10 Knockout HCT 116 Cell Line | EDJ-KQ74781 | Human | 93408 | Details Get a Quote |
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