PAX7 Antibody – Mouse Monoclonal

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; Oncoprotein; Transcription factor

Chromosomal Location of Human Ortholog: 1p36.13

Molecular Function: transcription factor activity

Biological Process: anatomical structure morphogenesis; negative regulation of apoptosis

Disease: Rhabdomyosarcoma 2