PAX7 est un gène codé par le symbole PAX7. Communément appelé aussi: Paired box protein Pax-7; HuP1; HUP1. PAX7 a une masse de 55.12kDa, une longueur d'acide aminé de 505, et est impliqué dans les maladies: Rhabdomyosarcoma 2; Myopathy, congenital, progressive, with scoliosis.
Nous proposons 13 des anticorps contre PAX7, élevé dans Lapin, Souris et Chèvre, qui sont appropriés pour le WB, IHC, ELISA, ICC/IF et Cytométrie en Flux avec des échantillons dérivés de Humain, Souris, Rat, Poulet et Poisson Zèbre.
Informations sur les Gènes et les Protéines
Résumé UniProt
Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
Résumé Entrez
This gene is a member of the paired box (PAX) family of transcription factors. Members of this gene family typically contain a paired box domain, an octapeptide, and a paired-type homeodomain. These genes play critical roles during fetal development and cancer growth. The specific function of the paired box 7 gene 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. Three transcript variants encoding different isoforms have been found for this gene.
Implication dans la maladie
Rhabdomyosarcoma 2: A form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchymal cells and exhibiting differentiation along rhabdomyoblastic lines. Rhabdomyosarcoma is one of the most frequently occurring soft tissue sarcomas and the most common in children. It occurs in four forms: alveolar, pleomorphic, embryonal and botryoidal rhabdomyosarcomas.
Myopathy, congenital, progressive, with scoliosis: An autosomal recessive muscular disorder characterized by infantile onset of progressive muscular atrophy, hypotonia, ptosis, scoliosis and dysmorphic facial features. Disease severity is variable, ranging from mild to severe.
Similitudes de séquence
Belongs to the paired homeobox family.
Localisation cellulaire
Nucleus.
