Function
Transcription factor that is involved in the regulation of muscle stem cells proliferation, playing a role in myogenesis and muscle regeneration.
Biological Context
Subcellular Location: Nucleus
Disease Association: Rhabdomyosarcoma 2 (RMS2) : 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. [The gene represented in this entry is involved in disease pathogenesis. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator] | Congenital myopathy 19 (CMYO19) : 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. [The disease is caused by variants affecting the gene represented in this entry]
Product Specifications
Recombinant Human Paired box protein Pax-7 (PAX7) is a recombinant protein from Homo sapiens (Human), expressed in E.coli, covering amino acids 1-520aa, with C-terminal 6xHis-tagged tag, molecular weight 63.8kDa, purity Greater than 90% as determined by SDS-PAGE.. Suitable for ELISA and Western Blot applications.
