PAX7 Antibody – Rabbit Polyclonal

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: Transcription factor; DNA-binding; Oncoprotein

Chromosomal Location of Human Ortholog: 1p36.13

Cellular Component: nucleus

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

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

Disease: Rhabdomyosarcoma 2