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GeneE
10 sources retrieved Β· Most recent: April 2026 Β· Index updated 14 days ago
β“˜GeneE is for informational purposes only. It is not a substitute for professional medical advice, diagnosis, or treatment.
PAX7
paired box 7
Chromosome 1 Β· 1p36.13
NCBI Gene: 5081Ensembl: ENSG00000009709.14HGNC: HGNC:8621UniProt: P23759
95PubMed Papers
22Diseases
0Drugs
5Pathogenic Variants
FUNCTIONAL ROLE
OncogeneTranscription Factor
CLINICAL
OMIM Disease Gene
DATA QUALITY
βœ“ Experimental GO Evidenceβœ“ Swiss-Prot Reviewed
sequence-specific double-stranded DNA bindingDNA-binding transcription factor activityRNA polymerase II cis-regulatory region sequence-specific DNA bindingDNA-binding transcription factor activity, RNA polymerase II-specificmyopathy, congenital, progressive, with scoliosiscleft lipalveolar rhabdomyosarcomacleft palate
✦AI Summary

PAX7 is a transcription factor that functions as a master regulator of skeletal muscle stem cell (satellite cell) fate and muscle regeneration. As a DNA-binding transcription factor, PAX7 controls the balance between satellite cell self-renewal and differentiation through sequence-specific binding to homeodomain motifs 1. PAX7 expression marks both dormant (PAX7High) and activated (PAX7High/MYOD1+) myogenic progenitor states during fetal development and post-natal muscle homeostasis 2. Mechanistically, PAX7 acetylation by MYST1 (stimulated by Acetyl-CoA) promotes its transcriptional activity and asymmetric satellite cell division, while SIRT2-mediated deacetylation (activated by NAD+) modulates this activity 1. PAX7+ satellite cells support muscle fiber regeneration and form specialized niches with regenerating myofibers expressing ACTC1 3. Exercise increases PAX7+ satellite cell numbers and promotes myogenic differentiation, contributing to muscle hypertrophy and strength gains 45. Clinically, PAX7 dysfunction associates with congenital myopathy 19, while PAX3/7-FOXO1 fusion proteins in alveolar rhabdomyosarcoma drive aggressive tumor growth through altered mitochondrial metabolism and leucine dependency 6. PAX7 expression is reduced in obesity-related muscle dysfunction and restored by exercise training, improving metabolic health and regenerative capacity 78.

Sources cited
1
PAX7 marks dormant and activated myogenic progenitor states with distinct molecular signatures during fetal myogenesis and muscle regeneration
PMID: 37963071
2
PAX7 acetylation by MYST1 and deacetylation by SIRT2 regulate satellite cell self-renewal and differentiation through DNA binding to homeodomain motifs
PMID: 34059674
3
PAX7+ satellite cells form specialized regenerative niches with ACTC1+ myofibers essential for stem cell support in vivo
PMID: 37919520
4
Exercise increases PAX7+ satellite cell numbers, contributing to muscle hypertrophy and strength gains
PMID: 26174323
5
PAX7 mRNA expression increases post-exercise regardless of resistance training intensity
PMID: 20711498
6
PAX3/7-FOXO1 fusion proteins in alveolar rhabdomyosarcoma drive aggressive tumor growth through altered mitochondrial metabolism
PMID: 40185100
7
PAX7 expression is reduced in obesity and restored by exercise training, improving muscle regenerative capacity and metabolic health
PMID: 40127780
8
PAX7+/MYOD+ and PAX7+/Ki67+ activated satellite cells increase with testosterone treatment in sarcopenia models
PMID: 40810394
Disease Associationsβ“˜22
myopathy, congenital, progressive, with scoliosisOpen Targets
0.70Strong
cleft lipOpen Targets
0.51Moderate
alveolar rhabdomyosarcomaOpen Targets
0.50Moderate
cleft palateOpen Targets
0.46Moderate
rhabdomyosarcomaOpen Targets
0.45Moderate
orofacial cleftOpen Targets
0.42Moderate
embryonal rhabdomyosarcomaOpen Targets
0.37Weak
desmoplastic small round cell tumorOpen Targets
0.37Weak
spindle cell rhabdomyosarcomaOpen Targets
0.37Weak
Extraskeletal Ewing Sarcoma/Peripheral Primitive Neuroectodermal TumorOpen Targets
0.37Weak
lymphoid neoplasmOpen Targets
0.37Weak
malignant soft tissue neoplasmOpen Targets
0.37Weak
Sinonasal Undifferentiated CarcinomaOpen Targets
0.37Weak
alcohol drinkingOpen Targets
0.33Weak
StutteringOpen Targets
0.31Weak
TicsOpen Targets
0.31Weak
facial morphologyOpen Targets
0.31Weak
gestational diabetesOpen Targets
0.29Weak
macular degenerationOpen Targets
0.29Weak
ovarian dysfunctionOpen Targets
0.29Weak
Congenital myopathy 19UniProt
Rhabdomyosarcoma 2UniProt
Pathogenic Variants5
NM_001135254.2(PAX7):c.220C>T (p.Arg74Ter)Pathogenic
Myopathy, congenital, progressive, with scoliosis|Myopathy, congenital, progressive, with scoliosis;Alveolar rhabdomyosarcoma
β˜…β˜…β˜†β˜†2026β†’ Residue 74
NM_001135254.2(PAX7):c.742G>T (p.Glu248Ter)Pathogenic
Myopathy, congenital, progressive, with scoliosis
β˜…β˜†β˜†β˜†2023β†’ Residue 248
NM_001135254.2(PAX7):c.86-1G>APathogenic
Myopathy, congenital, progressive, with scoliosis
β˜…β˜†β˜†β˜†2020
NM_001135254.2(PAX7):c.433C>T (p.Arg145Ter)Pathogenic
Myopathy, congenital, progressive, with scoliosis
β˜†β˜†β˜†β˜†2024β†’ Residue 145
NM_001135254.2(PAX7):c.166C>T (p.Arg56Cys)Pathogenic
Myopathy, congenital, progressive, with scoliosis
β˜†β˜†β˜†β˜†2024β†’ Residue 56
View on ClinVar β†—
Related Genes
CDH15Protein interaction90%ASH2LProtein interaction87%MSTNProtein interaction85%MYF5Protein interaction85%MYF6Protein interaction85%MYOD1Protein interaction85%
Tissue Expression6 tissues
Brain
100%
Lung
0%
Bone Marrow
0%
Heart
0%
Ovary
0%
Liver
0%
Gene Interaction Network
Click a node to explore
PAX7CDH15ASH2LMSTNMYF5MYF6MYOD1
PROTEIN STRUCTURE
Preparing viewer…
AlphaFoldAI-predicted Β· UniProt P23759
View on AlphaFold β†—
Constraintβ“˜
LOEUFβ“˜
0.50Moderately Constrained
pLIβ“˜
0.98Intolerant
Observed/Expected LoF0.33 [0.22–0.50]
RankingsWhere PAX7 stands among ~20K protein-coding genes
  • #5,050of 20,598
    Most Researched95 Β· top quartile
  • #3,527of 5,498
    Most Pathogenic Variants5
  • #3,048of 17,882
    Most Constrained (LOEUF)0.50 Β· top quartile
Genes detectedPAX7
Sources retrieved10 papers
Response timeβ€”
πŸ“„ Sources
10β–Ό
1
Human skeletal muscle organoids model fetal myogenesis and sustain uncommitted PAX7 myogenic progenitors.
PMID: 37963071
Elife Β· 2023
1.00
2
Post-exercise cold water immersion attenuates acute anabolic signalling and long-term adaptations in muscle to strength training.
PMID: 26174323
J Physiol Β· 2015
0.90
3
PAX translocations remodel mitochondrial metabolism through altered leucine usage in rhabdomyosarcoma.
PMID: 40185100
Cell Β· 2025
0.80
4
Low-load high volume resistance exercise stimulates muscle protein synthesis more than high-load low volume resistance exercise in young men.
PMID: 20711498
PLoS One Β· 2010
0.70
5
Physical training reduces cell senescence and associated insulin resistance in skeletal muscle.
PMID: 40127780
Mol Metab Β· 2025
0.60