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10 sources retrieved · Most recent: April 2026 · Index updated 14 days ago
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MYF6
myogenic factor 6
Chromosome 12 · 12q21.31
NCBI Gene: 4618Ensembl: ENSG00000111046.5HGNC: HGNC:7566UniProt: P23409
26PubMed Papers
20Diseases
0Drugs
1Pathogenic Variants
DATA QUALITY
✓ Experimental GO Evidence✓ Swiss-Prot Reviewed
nucleoplasmsequence-specific double-stranded DNA bindingprotein bindingnucleusautosomal dominant centronuclear myopathytype 2 diabetes mellitusaortic atherosclerosisArthropathy
✦AI Summary

MYF6 (myogenic factor 6) is a basic helix-loop-helix transcription factor that plays a critical role in skeletal muscle differentiation and development. As a member of the MyoD family, MYF6 functions as a sequence-specific DNA-binding protein that regulates muscle gene expression during myogenesis 1. The protein shows high evolutionary conservation, with 99% and 97% amino acid identity between pig and cow/human respectively 1. Single-cell RNA sequencing has identified MYF6+ satellite cells as a distinct subpopulation involved in muscle regeneration, with higher proportions found in soleus muscle 2. Functionally, MYF6 is essential for embryonic viability, as porcine embryos lacking MYF5/MYOD/MYF6 show complete absence of skeletal muscle formation, severe skeletal abnormalities, and embryonic lethality after day 62 3. The gene's expression is subject to posttranscriptional regulation through upstream AUG codons that reduce translation efficiency 4. Interestingly, MYF6 expression has been found in non-muscle contexts, being universally expressed in hairy cell leukemia and serving as a potential biomarker for this B-cell malignancy 5. Additionally, vitamin D deficiency affects muscle strength through VDR signaling pathways, with MYF6-expressing muscle showing reduced SERCA expression in knockout models 6.

Sources cited
1
MYF6 is a bHLH transcription factor of the MyoD family with high evolutionary conservation
PMID: 15595701
2
MYF6+ satellite cells are a distinct subpopulation involved in muscle regeneration
PMID: 38751367
3
MYF6 is essential for embryonic viability and skeletal muscle formation
PMID: 39934347
4
MYF6 expression is regulated by upstream AUG codons that reduce translation efficiency
PMID: 11368338
5
MYF6 is universally expressed in hairy cell leukemia and serves as a biomarker
PMID: 32040482
6
Vitamin D deficiency affects muscle strength through pathways involving MYF6-expressing muscle
PMID: 36237134
Disease Associationsⓘ20
autosomal dominant centronuclear myopathyOpen Targets
0.19Weak
type 2 diabetes mellitusOpen Targets
0.13Weak
aortic atherosclerosisOpen Targets
0.12Weak
ArthropathyOpen Targets
0.11Weak
ovarian dysfunctionOpen Targets
0.09Suggestive
thoracomelic dysplasiaOpen Targets
0.06Suggestive
thoracic dysostosis, isolatedOpen Targets
0.06Suggestive
Poland syndromeOpen Targets
0.06Suggestive
thoracolaryngopelvic dysplasiaOpen Targets
0.06Suggestive
short-rib thoracic dysplasia 17 with or without polydactylyOpen Targets
0.06Suggestive
spondylometaphyseal dysplasia, A4 typeOpen Targets
0.06Suggestive
autosomal recessive spondylocostal dysostosisOpen Targets
0.06Suggestive
ocular hypotensionOpen Targets
0.06Suggestive
kyphomelic dysplasiaOpen Targets
0.06Suggestive
metatropic dysplasiaOpen Targets
0.05Suggestive
diaphanospondylodysostosisOpen Targets
0.05Suggestive
chronic lymphocytic leukemiaOpen Targets
0.05Suggestive
Richieri Costa-da Silva syndromeOpen Targets
0.05Suggestive
ophthalmoplegia, external, with rib and vertebral anomaliesOpen Targets
0.05Suggestive
autosomal dominant osteosclerosis, Worth typeOpen Targets
0.05Suggestive
Pathogenic Variants1
NM_002469.3(MYF6):c.356G>A (p.Arg119Gln)Likely pathogenic
not provided
★☆☆☆2016→ Residue 119
View on ClinVar ↗
Related Genes
MYH2Protein interaction99%MYL1Protein interaction99%TCF3Protein interaction93%MYH6Protein interaction92%TCF12Protein interaction91%PAX3Protein interaction90%
Tissue Expression6 tissues
Lung
100%
Liver
80%
Ovary
20%
Brain
10%
Bone Marrow
0%
Heart
0%
Gene Interaction Network
Click a node to explore
MYF6MYH2MYL1TCF3MYH6TCF12PAX3
PROTEIN STRUCTURE
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AlphaFoldAI-predicted · UniProt P23409
View on AlphaFold ↗
Constraintⓘ
LOEUFⓘ
1.24LoF Tolerant
pLIⓘ
0.00Tolerant
Observed/Expected LoF0.85 [0.60–1.24]
RankingsWhere MYF6 stands among ~20K protein-coding genes
  • #12,835of 20,598
    Most Researched26
  • #5,300of 5,498
    Most Pathogenic Variants1
  • #13,085of 17,882
    Most Constrained (LOEUF)1.24
Genes detectedMYF6
Sources retrieved10 papers
Response time—
📄 Sources
10▼
1
Single-cell RNA-seq reveals novel interaction between muscle satellite cells and fibro-adipogenic progenitors mediated with FGF7 signalling.
PMID: 38751367
J Cachexia Sarcopenia Muscle · 2024
1.00
2
Porcine MYF6 gene: sequence, homology analysis, and variation in the promoter region.
PMID: 15595701
Anim Biotechnol · 2004
0.90
3
Porcine myogenesis in cloned wildtype and MYF5/MYOD/MYF6-null porcine embryo.
PMID: 39934347
Commun Biol · 2025
0.80
4
Posttranscriptional regulation of human ADH5/FDH and Myf6 gene expression by upstream AUG codons.
PMID: 11368338
Arch Biochem Biophys · 2001
0.70
5
Mechanisms and strategies to promote cardiac xenotransplantation.
PMID: 36030840
J Mol Cell Cardiol · 2022
0.60