From Wikipedia, the free encyclopedia
Jump to: navigation, search
Paired box 7
Symbols PAX7 ; HUP1; PAX7B; RMS2
External IDs OMIM167410 MGI97491 HomoloGene55665 GeneCards: PAX7 Gene
RNA expression pattern
PBB GE PAX7 208060 at tn.png
More reference expression data
Species Human Mouse
Entrez 5081 18509
Ensembl ENSG00000009709 ENSMUSG00000028736
UniProt P23759 P47239
RefSeq (mRNA) NM_001135254 NM_011039
RefSeq (protein) NP_001128726 NP_035169
Location (UCSC) Chr 1:
18.63 – 18.75 Mb
Chr 4:
139.74 – 139.83 Mb
PubMed search [1] [2]

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[1][2][3]


Pax-7 plays a role in neural crest development and gastrulation, and it is an important factor in the expression of neural crest markers such as Slug, Sox9, Sox10 and HNK-1.[4] PAX7 is expressed in the palatal shelf of the maxilla, Meckel's cartilage, mesencephalon, nasal cavity, nasal epithelium, nasal capsule and pons.

Pax7 is a transcription factor that plays a role in myogenesis through regulation of muscle precursor cells proliferation. It can bind to DNA as an heterodimer with PAX3. Also interacts with PAXBP1; the interaction links PAX7 to a WDR5-containing histone methyltransferase complex By similarity. Interacts with DAXX too. [5]

Clinical significance[edit]

Pax proteins play critical roles during fetal development and cancer growth. The specific function of the paired box gene 7 is unknown but speculated to involve tumor suppression since fusion of this gene with a forkhead domain family member has been associated with alveolar rhabdomyosarcoma. Alternative splicing in this gene has produced two known products but the biological significance of the variants is unknown.[3] Animal studies show that mutant mice have malformation of maxilla and the nose.[6]

See also[edit]


  1. ^ Stapleton P, Weith A, Urbanek P, Kozmik Z, Busslinger M (Jan 1995). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nat Genet 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. 
  2. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (Mar 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mamm Genome 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641. 
  3. ^ a b "Entrez Gene: PAX7 paired box gene 7". 
  4. ^ Basch ML, Bronner-Fraser M, García-Castro MI (May 2006). "Specification of the neural crest occurs during gastrulation and requires Pax7". Nature 441 (7090): 218–22. doi:10.1038/nature04684. PMID 16688176. 
  5. ^
  6. ^ Mansouri A, Stoykova A, Torres M, Gruss P (March 1996). "Dysgenesis of cephalic neural crest derivatives in Pax7-/- mutant mice". Development 122 (3): 831–8. PMID 8631261. 

Further reading[edit]

External links[edit]

This article incorporates text from the United States National Library of Medicine, which is in the public domain.