Paired Box Protein Pax-7 (PAX7) Antibody – Rabbit Polyclonal

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. [provided by RefSeq, Sep 2008]

PAX7: Probable transcription factor. May have a role in myogenesis. Defects in PAX7 are a cause of rhabdomyosarcoma type 2 (RMS2). It is a form of rhabdomyosarcoma, a highly malignant tumor of striated muscle derived from primitive mesenchimal 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. A chromosomal aberration involving PAX7 is found in rhabdomyosarcoma. Translocation t(1;13)(p36;q14) with FOXO1. The resulting protein is a transcriptional activator. Belongs to the paired homeobox family. 2 isoforms of the human protein are produced by alternative splicing.

Protein type: DNA-binding; Transcription factor; Oncoprotein

Chromosomal Location of Human Ortholog: 1p36.13

Cellular Component: nucleus

Molecular Function: sequence-specific DNA binding; transcription factor activity

Biological Process: anatomical structure morphogenesis; cartilage development; chromatin remodeling; dorsoventral neural tube patterning; embryonic skeletal development; negative regulation of apoptosis; neuron fate commitment; positive regulation of histone methylation; positive regulation of transcription from RNA polymerase II promoter; regulation of cell fate commitment; regulation of protein binding; satellite cell commitment; skeletal muscle regeneration; spinal cord association neuron differentiation; transcription, DNA-dependent

Disease: Rhabdomyosarcoma 2