catalog number :
MBS120290
products full name :
Mouse monoclonal antibody Anti-Human PAX3
products short name :
PAX3
products name syn :
Homo sapiens paired box gene 3 (Waardenburg syndrome 1) (PAX3); WS1; CDHS; HUP2; MGC120381; MGC120382; MGC120383; MGC120384; MGC134778
other names :
Homo sapiens paired box 3 (PAX3), transcript variant PAX3A, mRNA; Paired box protein Pax-3; paired box protein Pax-3; paired box homeotic gene 3; paired domain gene 3; paired domain gene HuP2; paired box 3; HuP2
products gene name :
PAX3
other gene names :
PAX3; PAX3; WS1; WS3; CDHS; HUP2
uniprot entry name :
PAX3_HUMAN
concentration :
100 ug/ml (1.0 ml)
tested application :
Dot Blot (DB)
other info1 :
Preparation: This antibody was purified using protein G column chromatography from culture supernatant of hybridoma cultured in a medium containing bovine IgG-depleted (approximately 95%) fetal bovine serum.
other info2 :
Sterility: Filtered through a 0.22 um membrane.
products 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. [NCBI Entrez Gene Summary]
ncbi acc num :
NP_000429.2
ncbi gb acc num :
NM_000438
ncbi mol weight :
55,975 Da
ncbi pathways :
Neural Crest Differentiation Pathway (672460); Regulation Of Retinoblastoma Protein Pathway (137916); Transcriptional Misregulation In Cancer Pathway (523016); Transcriptional Misregulation In Cancer Pathway (522987)
ncbi summary :
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 summary :
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: Oncoprotein; DNA-binding; Transcription factor. 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; positive regulation of transcription, DNA-dependent; heart development; pigmentation during development; neuron fate commitment; negative regulation of transcription from RNA polymerase II promoter; cell proliferation; organ morphogenesis; sensory perception of sound; neural tube closure; positive regulation of cell proliferation; 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