MYMX (Myomixer, Myoblast Fusion Factor)
A key regulator of myoblast fusion and skeletal muscle development
Gene Information Card
| Symbol | MYMX |
|---|---|
| Full Name | Myomixer, Myoblast Fusion Factor |
| Gene Type | Protein-coding |
| Chromosomal Location | 6p21.1 |
| NCBI Gene ID | 101929726 ncbi.nlm.nih.gov/gene/101929726 |
| Ensembl ID | ENSG00000278789 |
| UniProt ID | A0A1B0GTV8 |
| OMIM ID | 617470 |
| HGNC ID | 53451 |
| Aliases | Mymx, Gm7324, myomixer |
Description
MYMX (myomixer) encodes a small transmembrane protein essential for myoblast fusion during skeletal muscle development and regeneration. It acts as a fusogen, promoting cell-cell fusion by interacting with the membrane and other fusion machinery. MYMX is expressed in developing and regenerating muscle and is critical for proper muscle formation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Muscle hypotrophy | Impaired myoblast fusion due to MYMX deficiency leads to reduced muscle fiber size | Mouse models; no direct human disease association yet in ClinVar |
| Muscle regeneration defects | Loss of MYMX prevents fusion of satellite cells, impairing muscle repair after injury | Experimental evidence in mice |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 0.0 | Not detected (low expression in adult; high in developing muscle) |
| Heart | 0.0 | Not detected |
| Brain | 0.0 | Not detected |
| Liver | 0.0 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| C2C12 myoblasts | High (upon differentiation) | Induced during myotube formation |
| Primary human myoblasts | Moderate | Upregulated during fusion |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.1A>G (p.Met1?) | Missense | Rare | Likely loss of start codon, predicted loss of function |
| c.55C>T (p.Arg19*) | Nonsense | Rare | Premature stop, loss of function |
Mutation functional classification
Loss of Function (LOF)
Loss-of-function mutations in MYMX impair myoblast fusion, leading to reduced muscle fiber number and size.
Gain of Function (GOF)
No gain-of-function mutations reported.
Dominant Negative (DN)
No dominant-negative mutations reported.
View complete mutation data：
Gene Ontology (GO)
| • myoblast fusion (GO:0007520) | • integral component of membrane (GO:0016021) |
| • plasma membrane (GO:0005886) |
Pathways
• Myoblast fusion pathway
• Skeletal muscle development
Protein Summary
MYMX (myomixer) is a small, single-pass transmembrane protein of approximately 84 amino acids. It localizes to the plasma membrane and is essential for myoblast fusion. MYMX promotes membrane merger by forming fusogenic complexes with other proteins such as myomaker. It is transiently expressed during muscle development and regeneration.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYMX Knockout HEK293 Cell Line | EDJ-KQ14343 | Human | 101929726 | Details Get a Quote |
