PAX7

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Paired box 7
Identifiers
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
Orthologs
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:
18.96 – 19.08 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]

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.[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]

References[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. ^ http://www.uniprot.org/uniprot/P23759
  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.