MYMK: Myomaker, Myoblast Fusion Factor
Essential regulator of skeletal muscle formation and regeneration
Gene Information Card
| Symbol | MYMK |
|---|---|
| Full Name | myomaker, myoblast fusion factor |
| Gene Type | protein coding |
| Chromosomal Location | 9q34.2 |
| NCBI Gene ID | 389827 ncbi.nlm.nih.gov/gene/389827 |
| Ensembl ID | ENSG00000164938 |
| UniProt ID | A6NHS1 |
| OMIM ID | 615925 |
| HGNC ID | 28878 |
| Aliases | TMEM8C, myomaker |
Description
MYMK (myomaker) encodes a muscle-specific transmembrane protein essential for myoblast fusion during skeletal muscle development and regeneration. It is a key fusogen that mediates cell-cell fusion of myoblasts to form multinucleated myotubes. Mutations in MYMK cause Carey-Fineman-Ziter syndrome, a congenital myopathy with facial dysmorphism.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Carey-Fineman-Ziter syndrome | Loss-of-function mutations impair myoblast fusion, leading to muscle weakness and developmental defects | OMIM #254940; ClinVar |
| Congenital myopathy | Disrupted myomaker function reduces muscle fiber formation and regeneration | OMIM; PubMed |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 22.4 | High |
| Heart | 1.2 | Low |
| Lung | 0.1 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 15.8 | High expression during differentiation |
| RH-30 (rhabdomyosarcoma) | 8.5 | Moderate expression |
| A549 (lung carcinoma) | 0.2 | Not detected |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.272C>T (p.Pro91Leu) | Missense | Rare | Loss of fusion activity |
| c.1A>G (p.Met1?) | Start loss | Rare | No protein production |
| c.649C>T (p.Arg217*) | Nonsense | Rare | Truncated, nonfunctional |
Mutation functional classification
Loss of Function (LOF)
Most MYMK mutations are loss-of-function, impairing myoblast fusion and causing Carey-Fineman-Ziter syndrome.
Gain of Function (GOF)
Not reported.
Dominant Negative (DN)
Not reported; disease is autosomal recessive.
View complete mutation data：
Gene Ontology (GO)
| • myoblast fusion | • plasma membrane fusion |
| • muscle cell differentiation | • skeletal muscle tissue development |
| • integral component of membrane |
Pathways
• Myoblast fusion pathway
• Skeletal muscle development
Protein Summary
Myomaker is a 221-amino acid transmembrane protein with seven membrane-spanning domains. It is specifically expressed in skeletal muscle and localizes to the plasma membrane, where it directly mediates myoblast fusion. It interacts with myomixer (MYMX) to promote cell-cell fusion. Without myomaker, myoblasts fail to fuse, leading to muscle hypoplasia and weakness.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYMK Knockout HEK293 Cell Line | EDJ-KQ14342 | Human | 389827 | Details Get a Quote |
| MYMK Knockout HeLa Cell Line | EDJ-KQ60108 | Human | 389827 | Details Get a Quote |
| MYMK Knockout A-549 Cell Line | EDJ-KQ68571 | Human | 389827 | Details Get a Quote |
| MYMK Knockout HCT 116 Cell Line | EDJ-KQ76947 | Human | 389827 | Details Get a Quote |
