PAX7

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PAX7
Identifiers
Aliases PAX7, HUP1, PAX7B, RMS2, Pax7, paired box 7
External IDs MGI: 97491 HomoloGene: 55665 GeneCards: 5081
Genetically Related Diseases
Disease Name References
cleft lip and palate
RNA expression pattern
PBB GE PAX7 208060 at tn.png
More reference expression data
Orthologs
Species Human Mouse
Entrez
Ensembl
UniProt
RefSeq (mRNA)

NM_013945
NM_001135254
NM_002584

NM_011039

RefSeq (protein)

NP_001128726.1
NP_002575.1
NP_039236.1

NP_035169.1

Location (UCSC) Chr 1: 18.63 – 18.75 Mb Chr 4: 139.74 – 139.83 Mb
PubMed search [2] [3]
Wikidata
View/Edit Human View/Edit Mouse

Paired box protein Pax-7 is a protein that in humans is encoded by the PAX7 gene.[4][5][6]

Function[edit]

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.[7] 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.[8]

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.[6] Animal studies show that mutant mice have malformation of maxilla and the nose.[9]

See also[edit]

References[edit]

  1. ^ "chibi.ubc.ca/Gemma/phenotypes.html?phenotypeUrlId=DOID_0050567&geneId=121692". 
  2. ^ "Human PubMed Reference:". 
  3. ^ "Mouse PubMed Reference:". 
  4. ^ Stapleton P, Weith A, Urbánek P, Kozmik Z, Busslinger M (Apr 1993). "Chromosomal localization of seven PAX genes and cloning of a novel family member, PAX-9". Nature Genetics. 3 (4): 292–8. doi:10.1038/ng0493-292. PMID 7981748. 
  5. ^ Pilz AJ, Povey S, Gruss P, Abbott CM (Mar 1993). "Mapping of the human homologs of the murine paired-box-containing genes". Mammalian Genome. 4 (2): 78–82. doi:10.1007/BF00290430. PMID 8431641. 
  6. ^ a b "Entrez Gene: PAX7 paired box gene 7". 
  7. ^ 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. 
  8. ^ http://www.uniprot.org/uniprot/P23759
  9. ^ Mansouri A, Stoykova A, Torres M, Gruss P (Mar 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.