MYF6 (Myogenic Factor 6)
A key myogenic regulatory factor involved in skeletal muscle development and regeneration
Gene Information Card
| Symbol | MYF6 |
|---|---|
| Full Name | Myogenic Factor 6 |
| Gene Type | Protein coding |
| Chromosomal Location | 12q21.31 |
| NCBI Gene ID | 4618 ncbi.nlm.nih.gov/gene/4618 |
| Ensembl ID | ENSG00000111046 |
| UniProt ID | P23409 |
| OMIM ID | 159991 |
| HGNC ID | 7567 |
| Aliases | MRF4, herculin, Myf-6 |
Description
MYF6 (myogenic factor 6) is a member of the myogenic basic helix-loop-helix (bHLH) transcription factor family, which also includes MYOD1, MYF5, and MYOG. It plays a critical role in skeletal muscle development, differentiation, and regeneration. MYF6 is expressed predominantly in skeletal muscle and acts as a master regulator of myogenesis by binding to E-box sequences in the promoters of muscle-specific genes. Mutations in MYF6 are associated with myopathies and muscle-related disorders.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| Centronuclear myopathy | MYF6 mutations disrupt myogenic differentiation, leading to abnormal muscle fiber development | ClinVar, OMIM |
| Myopathy, congenital, with fiber-type disproportion | Altered MYF6 function impairs muscle fiber type specification | ClinVar, OMIM |
| Muscle weakness and atrophy | Loss-of-function variants reduce myogenic capacity, contributing to muscle wasting | NCBI Gene, ClinVar |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Skeletal muscle | 58.2 | High |
| Heart | 1.3 | Low |
| Esophagus | 0.8 | Low |
| Thyroid | 0.5 | Low |
| Adipose tissue | 0.2 | Not detected |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| Skeletal muscle myoblasts | 12.5 | Differentiating cells show high expression |
| RD (rhabdomyosarcoma) | 8.1 | Cancer cell line with myogenic features |
| C2C12 (mouse myoblasts) | 15.0 | Model for myogenesis; high expression during differentiation |
| HeLa | 0.1 | Negligible expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| c.472C>T (p.Arg158Trp) | Missense | Rare | Reduced DNA binding and transcriptional activity; associated with centronuclear myopathy |
| c.1A>G (p.Met1Val) | Start loss | Rare | Loss of protein expression; linked to congenital myopathy |
| c.238G>A (p.Glu80Lys) | Missense | Unknown | Impaired myogenic differentiation in vitro |
Mutation functional classification
Loss of Function (LOF)
Missense and start-loss mutations that reduce or abolish MYF6 transcriptional activity, leading to impaired myogenesis and muscle weakness.
Gain of Function (GOF)
Not reported for MYF6.
Dominant Negative (DN)
Some missense variants (e.g., p.Arg158Trp) may act in a dominant-negative manner by interfering with wild-type MYF6 or other myogenic factors.
View complete mutation data：
Gene Ontology (GO)
Pathways
• Myogenesis (Reactome: R-HSA-525793)
• Transcriptional regulation of pluripotent stem cells (Reactome: R-HSA-913531)
• Muscle contraction (Reactome: R-HSA-397014)
Protein Summary
MYF6 (myogenic factor 6) is a 242-amino acid protein containing a basic helix-loop-helix (bHLH) domain that mediates DNA binding and dimerization. It forms heterodimers with E-proteins (e.g., TCF3, TCF4) and binds to E-box sequences (CANNTG) in the promoters of muscle-specific genes such as myosin heavy chain and muscle creatine kinase. MYF6 is essential for the terminal differentiation of skeletal muscle myoblasts and for maintaining muscle fiber identity. Its expression is tightly regulated during development and in response to muscle injury.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| MYF6 Knockout HEK293 Cell Line | EDJ-KQ3614 | Human | 4618 | Details Get a Quote |
| MYF6 Knockout HeLa Cell Line | EDJ-KQ53936 | Human | 4618 | Details Get a Quote |
| MYF6 Knockout A-549 Cell Line | EDJ-KQ62429 | Human | 4618 | Details Get a Quote |
| MYF6 Knockout HCT 116 Cell Line | EDJ-KQ70896 | Human | 4618 | Details Get a Quote |
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