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PAX7
paired box 7
PAX7 is located on the short (p) arm of chromosome 1, at band 1p36.13. Arm ratio per GRCh38 - banding schematic.
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Overview
PAX7 (paired box 7) encodes a transcription factor crucial for embryonic development and tissue regeneration. The protein acts as a molecular switch, turning genes on and off at specific developmental stages to guide cell fate decisions. PAX7 is particularly important in skeletal muscle, where it maintains populations of satellite cells-specialised stem cells that enable muscle repair and growth throughout life.
The gene is located on chromosome 1 at position p36.13, a region known to harbour several developmental regulatory genes. Research into PAX7 has illuminated fundamental mechanisms of tissue maintenance and regeneration, with implications for understanding developmental disorders and muscle biology.
What the gene does
The PAX7 protein functions as a sequence-specific DNA-binding transcription factor, recognising and attaching to particular DNA sequences to regulate target gene expression. In muscle tissue, PAX7 maintains satellite cells in a quiescent state, preventing premature differentiation whilst preserving their capacity to activate and repair damaged muscle fibres when needed.
During embryonic development, PAX7 plays essential roles in neural tube formation and somite patterning. The protein coordinates the expression of genes involved in cell proliferation, migration, and differentiation, ensuring proper tissue architecture. In the nervous system, PAX7 contributes to the specification of distinct neuronal populations within the developing brain and spinal cord.
Beyond embryogenesis, PAX7 continues to function in adult tissues by regulating muscle stem cell pools. The protein's activity must be precisely controlled-too little results in insufficient regenerative capacity, whilst excessive activity can impair normal muscle function.
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Chromosome location
PAX7 is located on the short arm of chromosome 1 at cytogenetic band 1p36.13. This chromosomal region lies near the telomere and contains numerous genes involved in development and growth regulation. The precise exon structure and genomic span of PAX7 have been mapped through genome sequencing efforts.
Protein structure
Domain architecture has not been experimentally characterised in detail for this protein.
Key variants
Genetic variants in PAX7 can affect the protein's ability to bind DNA or interact with regulatory partners, potentially disrupting normal developmental programmes. Changes may alter the timing or extent of gene expression in target tissues. Inheritance patterns for PAX7-related conditions vary depending on the specific variant and associated phenotype.
Sample of pathogenic variants
4 pathogenic / likely-pathogenic variants from ClinVar, ranked by review status (expert-panel-reviewed first). This is a sample; recurrent founder variants in a specific population may not appear here - see the full ClinVar listing via the link above.
| Variant (HGVS) | Protein change | Classification | Evidence | Associated condition |
|---|---|---|---|---|
c.220C>T | p.Arg74Ter | Pathogenic/Likely pathogenic | ★★☆☆ | Myopathy, congenital, progressive, with scoliosis |
c.742G>T | p.Glu248Ter | Pathogenic | ★☆☆☆ | Myopathy, congenital, progressive, with scoliosis |
c.86-1G>A | - | Pathogenic | ★☆☆☆ | Myopathy, congenital, progressive, with scoliosis |
c.433C>T | p.Arg145Ter | Pathogenic | - | Myopathy, congenital, progressive, with scoliosis |
Evidence stars indicate ClinVar review status. Individual variant interpretation should always be performed by a qualified clinical laboratory - many variants remain classified as Variants of Uncertain Significance (VUS) pending more research.
Associated conditions
Whilst PAX7 plays critical roles in development and tissue maintenance, specific Mendelian disease associations have not been extensively characterised in clinical genetics databases. Research suggests the gene contributes to normal muscle and neural development, and variants may influence these processes. The gene's importance is primarily understood through developmental biology studies rather than clinical disease catalogues.
No disease links recorded for this gene in our reference set.
UK clinical status
Sources: NHS GMS PanelApp · Genomics England PanelApp · NHS National Genomic Test Directory
Frequently asked questions
What does the PAX7 gene do?
PAX7 provides instructions for making a transcription factor that controls gene expression during embryonic development and maintains muscle stem cells in adults. The protein is essential for proper muscle and nervous system formation.
How common are PAX7 variants?
The frequency of PAX7 variants in the general population has not been systematically characterised in large-scale genomic studies. Research focuses primarily on the gene's developmental functions rather than population genetics.
Is genetic testing available for PAX7?
PAX7 is not currently included in standard NHS clinical genetics panels. Testing might be available through research studies or specialist evaluation if there is clinical suspicion of a developmental condition involving this gene.