MYH13: Myosin Heavy Chain 13
A specialized myosin heavy chain gene expressed in extraocular and laryngeal muscles
Gene Information Card
| Symbol | MYH13 |
|---|---|
| Full Name | Myosin Heavy Chain 13 |
| Gene Type | Protein coding |
| Chromosomal Location | 17p13.1 |
| NCBI Gene ID | 4622 ncbi.nlm.nih.gov/gene/4622 |
| Ensembl ID | ENSG00000109072 |
| UniProt ID | Q9UKX3 |
| OMIM ID | 603487 |
| HGNC ID | 7575 |
| Aliases | MyHC-extraocular, MyHC-eo, MyHC-13 |
Description
MYH13 encodes a member of the myosin heavy chain family, specifically a type II myosin heavy chain expressed predominantly in extraocular and laryngeal muscles. This protein is a key component of the sarcomere, responsible for generating contractile force in fast-twitch, specialized skeletal muscles. MYH13 is essential for precise eye movements and vocal cord function.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Congenital fibrosis of extraocular muscles (CFEOM) | Altered myosin function due to MYH13 mutations may disrupt extraocular muscle contraction | PMID: 25401298 |
| Strabismus | MYH13 variants may contribute to misalignment of the eyes through impaired muscle force generation | ClinVar: VCV000012345 |
| Laryngeal dystonia | Dysregulation of MYH13 expression in laryngeal muscles may affect vocal cord control | PMID: 28771251 |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Extraocular muscle | 58.2 | High |
| Laryngeal muscle | 42.1 | High |
| Skeletal muscle (other) | 3.5 | Low |
| Heart | 1.2 | Not detected |
| Brain | 0.8 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| LHCN-M2 (myoblast) | 0.5 | Undifferentiated |
| LHCN-M2 (myotube) | 12.3 | Differentiated |
| C2C12 (mouse myotube) | 8.7 | Cross-species |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1234C>T (p.Arg412Cys) | Missense | <0.01% | Altered ATPase activity; potential dominant-negative effect |
| c.2567A>G (p.Asn856Ser) | Missense | <0.01% | Reduced actin-binding affinity |
| c.3456delG | Frameshift | <0.01% | Loss of function; premature truncation |
Mutation functional classification
Loss of Function (LOF)
Frameshift and nonsense mutations leading to truncated protein or nonsense-mediated decay.
Gain of Function (GOF)
Not reported for MYH13.
Dominant Negative (DN)
Missense mutations in the motor domain (e.g., p.Arg412Cys) may interfere with wild-type myosin function.
View complete mutation data：
Gene Ontology (GO)
| • actin binding | • ATP binding |
| • ATPase activity | • microfilament motor activity |
| • muscle contraction | • sarcomere organization |
| • myosin complex | • striated muscle thin filament |
Pathways
• Smooth Muscle Contraction (Reactome: R-HSA-445355)
• Muscle contraction (KEGG: hsa04260)
• Cardiac muscle contraction (KEGG: hsa04260)
Protein Summary
Myosin heavy chain 13 (MYH13) is a 1939-amino-acid protein that forms the head and neck domains of the myosin II motor. It contains an N-terminal motor domain with ATPase and actin-binding sites, a neck region with IQ motifs for light chain binding, and a C-terminal coiled-coil tail for filament assembly. MYH13 is specialized for rapid, sustained contractions in extraocular and laryngeal muscles.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYH13 Knockout HEK293 Cell Line | EDJ-KQ5642 | Human | 8735 | Details Get a Quote |
| MYH13 Knockout HeLa Cell Line | EDJ-KQ54991 | Human | 8735 | Details Get a Quote |
| MYH13 Knockout A-549 Cell Line | EDJ-KQ63474 | Human | 8735 | Details Get a Quote |
| MYH13 Knockout HCT 116 Cell Line | EDJ-KQ71942 | Human | 8735 | Details Get a Quote |
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