Mouse anti-Human PAX3 Monoclonal Antibody | anti-PAX3 antibody
PAX3 (Paired Box Protein Pax-3, HuP2, HUP2, MGC120381, MGC120382, MGC120383, MGC120384, MGC134778) (HRP)
NCBI and Uniprot Product Information
NCBI Description
This gene is a member of the paired box (PAX) family of transcription factors. Members of the PAX family typically contain a paired box domain and a paired-type homeodomain. These genes play critical roles during fetal development. Mutations in paired box gene 3 are associated with Waardenburg syndrome, craniofacial-deafness-hand syndrome, and alveolar rhabdomyosarcoma. The translocation t(2;13)(q35;q14), which represents a fusion between PAX3 and the forkhead gene, is a frequent finding in alveolar rhabdomyosarcoma. Alternative splicing results in transcripts encoding isoforms with different C-termini. [provided by RefSeq, Jul 2008]
Uniprot Description
PAX3: Probable transcription factor associated with development of alveolar rhabdomyosarcoma. Can bind to DNA as a heterodimer with PAX7. Interacts with DAXX. Belongs to the paired homeobox family. 7 isoforms of the human protein are produced by alternative splicing.
Protein type: Transcription factor; Oncoprotein; DNA-binding
Chromosomal Location of Human Ortholog: 2q35
Cellular Component: nucleus
Molecular Function: RNA polymerase II transcription factor activity, enhancer binding; protein binding; sequence-specific DNA binding; chromatin binding; transcription factor activity
Biological Process: transcription from RNA polymerase II promoter; muscle development; apoptosis; heart development; positive regulation of transcription, DNA-dependent; pigmentation during development; neuron fate commitment; negative regulation of transcription from RNA polymerase II promoter; cell proliferation; organ morphogenesis; sensory perception of sound; positive regulation of cell proliferation; neural tube closure; spinal cord association neuron differentiation; positive regulation of transcription from RNA polymerase II promoter; regulation of somitogenesis; neural crest cell migration
Disease: Waardenburg Syndrome, Type 3; Craniofacial-deafness-hand Syndrome; Rhabdomyosarcoma 2; Waardenburg Syndrome, Type 1