PAX7 è un gene codificato dal simbolo PAX7. Comunemente indicato anche come: Paired box protein Pax-7; HuP1; HUP1. PAX7 ha una massa di 55.12kDa, una lunghezza di amminoacidi di 505, ed è implicato nella malattia: Rhabdomyosarcoma 2; Myopathy, congenital, progressive, with scoliosis.
Offriamo 12 anticorpi contro PAX7, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ICC/IF e Citometria a Flusso con campioni derivati da Umano, Topo, Ratto, Pollo e Zebrafish.
Informazioni su geni e proteine
Riepilogo UniProt
Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
Sommario di 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.
Coinvolgimento nella malattia
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.
Somiglianze di sequenza
Belongs to the paired homeobox family.
Posizione cellulare
Nucleus.
