MYH7 Gene: Beta-Myosin Heavy Chain in Cardiomyopathy and Skeletal Myopathy
Comprehensive resource on MYH7 genetics, expression, mutations, and clinical significance
Gene Information Card
| Symbol | MYH7 |
|---|---|
| Full Name | Myosin Heavy Chain 7 |
| Gene Type | Protein coding |
| Chromosomal Location | 14q11.2 |
| NCBI Gene ID | 4625 ncbi.nlm.nih.gov/gene/4625 |
| Ensembl ID | ENSG00000092054 |
| UniProt ID | P12883 |
| OMIM ID | 160760 |
| HGNC ID | 7577 |
| Aliases | CMH1, MPD1, MYHCB, beta-MyHC |
Description
The MYH7 gene encodes the beta (slow) isoform of the myosin heavy chain, a major contractile protein in cardiac muscle and slow-twitch skeletal muscle fibers. It forms the thick filament of the sarcomere and hydrolyzes ATP to generate force for muscle contraction. Mutations in MYH7 are a common cause of hypertrophic cardiomyopathy (HCM) and can also lead to dilated cardiomyopathy (DCM), restrictive cardiomyopathy, and various skeletal myopathies including Laing distal myopathy and myosin storage myopathy.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Hypertrophic Cardiomyopathy (HCM) | Dominant-negative or gain-of-function mutations impair sarcomere function, leading to myocyte hypertrophy and disarray. | ClinVar, OMIM |
| Dilated Cardiomyopathy (DCM) | Loss-of-function or dominant-negative mutations reduce contractile force, causing ventricular dilation and systolic dysfunction. | ClinVar, OMIM |
| Laing Distal Myopathy | Mutations in the rod domain disrupt myosin filament assembly, causing distal muscle weakness. | OMIM, UniProt |
| Myosin Storage Myopathy | Aggregation of mutant myosin heavy chain in muscle fibers leads to protein accumulation and myopathy. | OMIM |
| Restrictive Cardiomyopathy | Altered myosin kinetics impair diastolic relaxation, leading to restrictive filling. | ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Heart | High | High |
| Skeletal Muscle | High | High |
| Thyroid | Low | Low |
| Adipose Tissue | Low | Low |
| Liver | Not detected | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Cardiomyocytes | High | Primary cell type expressing MYH7 |
| Skeletal muscle myotubes | High | Differentiated myotubes show high expression |
| HeLa | Low | Non-muscle cell line with minimal expression |
| HepG2 | Not detected | Liver cancer cell line |
| A549 | Not detected | Lung cancer cell line |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| p.Arg403Gln (R403Q) | Missense | Common in HCM | Gain-of-function; increased ATPase activity and altered calcium sensitivity |
| p.Arg453Cys (R453C) | Missense | Rare | Dominant-negative; disrupts actin-myosin interaction |
| p.Val606Met (V606M) | Missense | Rare | Dominant-negative; impairs force generation |
| p.Arg719Trp (R719W) | Missense | Rare | Gain-of-function; increased power output |
| p.Glu930Lys (E930K) | Missense | Rare | Dominant-negative; affects myosin head flexibility |
| c.5769+1G>A | Splice site | Rare | Loss-of-function; exon skipping leading to truncated protein |
Mutation functional classification
Loss of Function (LOF)
Mutations that reduce myosin ATPase activity or disrupt filament assembly, leading to reduced contractile force, often associated with dilated cardiomyopathy.
Gain of Function (GOF)
Mutations that increase ATPase activity or alter actin-myosin kinetics, leading to hypercontractility and energy depletion, commonly seen in hypertrophic cardiomyopathy.
Dominant Negative (DN)
Mutant myosin incorporates into the sarcomere and interferes with wild-type function, causing a dominant effect even in heterozygous state.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • calmodulin binding | • microfilament motor activity |
| • myosin heavy chain binding | • actin filament binding |
| • ATPase activity | • muscle contraction |
| • sarcomere organization | • cardiac muscle contraction |
Pathways
• Cardiac muscle contraction (KEGG hsa04260)
• Hypertrophic cardiomyopathy (KEGG hsa05410)
• Dilated cardiomyopathy (KEGG hsa05414)
• Actin cytoskeleton regulation
• Myosin filament assembly
Protein Summary
MYH7 encodes the beta-myosin heavy chain, a 223 kDa protein that forms homodimers to create the thick filament of the sarcomere. It consists of a globular head domain with ATPase and actin-binding sites, a neck region with light chain binding, and a coiled-coil rod domain that facilitates filament assembly. The protein is predominantly expressed in cardiac ventricles and slow-twitch skeletal muscle fibers. Mutations in MYH7 are a leading genetic cause of hypertrophic cardiomyopathy and also contribute to dilated cardiomyopathy and skeletal myopathies. The protein's function is critical for force generation and muscle contraction, and its dysfunction leads to a spectrum of clinical phenotypes.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH7 Knockout HEK293 Cell Line | EDJ-KQ1837 | Human | 4625 | Details Get a Quote |
| MYH7B Knockout HEK293 Cell Line | EDJ-KQ12071 | Human | 57644 | Details Get a Quote |
| MYH7 Knockout HeLa Cell Line | EDJ-KQ53942 | Human | 4625 | Details Get a Quote |
| MYH7B Knockout HeLa Cell Line | EDJ-KQ56893 | Human | 57644 | Details Get a Quote |
| MYH7 Knockout A-549 Cell Line | EDJ-KQ62434 | Human | 4625 | Details Get a Quote |
| MYH7B Knockout A-549 Cell Line | EDJ-KQ65406 | Human | 57644 | Details Get a Quote |
| MYH7 Knockout HCT 116 Cell Line | EDJ-KQ70901 | Human | 4625 | Details Get a Quote |
| MYH7B Knockout HCT 116 Cell Line | EDJ-KQ73843 | Human | 57644 | Details Get a Quote |
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