Anti-PAX3 Antibody Picoband®

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.

Widely expressed. Isoform 1 and isoform 3 are predominant. Isoform 4, isoform 5 and isoform 6 are expressed moderately. Isoform 8 is found at low frequency. Isoform 7, isoform 9 and isoform 10 are not expressed in adult tissues, with the exception of adult retina expressing isoform 10. Isoform 9 is faintly expressed in fetal brain, heart, lung, skeletal muscle and spleen. Fetal thymus expresses isoforms 1, 7, 9 and 10 at similar levels.

Apoptosis, Apoptotic Markers, Cancer, Cell Biology, Cell Death, Domain Families, Epigenetics and Nuclear Signaling, Intracellular, Metabolic Signaling Pathways, Metabolism, Mitochondrial Metabolism, NFKB Pathway, Nuclear Hormone Receptors, Nuclear Receptors, Nuclear Signaling, Nuclear Signaling Pathways, Nucleotide Metabolism, Pathways and Processes, Signal Transduction, Signaling Pathway, Transcription, Zinc Finger

NF-kappa-B is a pleiotropic transcription factor present in almost all cell types and is the endpoint of a series of signal transduction events that are initiated by a vast array of stimuli related to many biological processes such as inflammation, immunity, differentiation, cell growth, tumorigenesis and apoptosis. NF-kappa-B is a homo- or heterodimeric complex formed by the Rel-like domain-containing proteins RELA/p65, RELB, NFKB1/p105, NFKB1/p50, REL and NFKB2/p52 and the heterodimeric p65-p50 complex appears to be most abundant one. The dimers bind at kappa-B sites in the DNA of their target genes and the individual dimers have distinct preferences for different kappa-B sites that they can bind with distinguishable affinity and specificity. Different dimer combinations act as transcriptional activators or repressors, respectively. NF-kappa-B is controlled by various mechanisms of post-translational modification and subcellular compartmentalization as well as by interactions with other cofactors or corepressors. NF-kappa-B complexes are held in the cytoplasm in an inactive state complexed with members of the NF-kappa-B inhibitor (I-kappa-B) family. In a conventional activation pathway, I-kappa-B is phosphorylated by I-kappa-B kinases (IKKs) in response to different activators, subsequently degraded thus liberating the active NF-kappa-B complex which translocates to the nucleus. NF-kappa-B heterodimeric p65-p50 and p65-c-Rel complexes are transcriptional activators. The NF-kappa-B p65-p65 complex appears to be involved in invasin-mediated activation of IL-8 expression. The inhibitory effect of I-kappa-B upon NF-kappa-B the cytoplasm is exerted primarily through the interaction with p65. p65 shows a weak DNA-binding site which could contribute ly to DNA binding in the NF-kappa-B complex. Associates with chromatin at the NF-kappa-B promoter region via association with DDX1. Essential for cytokine gene expression in T-cells (PubMed:15790681) .

1. Asher, J. H., Jr., Sommer, A., Morrell, R., Friedman, T. B. Missense mutation in the paired domain of PAX3 causes craniofacial-deafness-hand syndrome. Hum. Mutat. 7: 30-35, 1996. 2. Baldwin, C. T., Hoth, C. F., Macina, R. A., Milunsky, A. Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature. Am. J. Med. Genet. 58: 115-122, 1995. 3. Barber, T. D., Barber, M. C., Cloutier, T. E., Friedman, T. B. PAX3 gene structure, alternative splicing and evolution. Gene 237: 311-319, 1999.

Store at -20°C for one year from date of receipt. After reconstitution, at 4°C for one month. It can also be aliquotted and stored frozen at -20°C for six months. Avoid repeated freeze-thaw cycles.

Nucleus. Cytoplasm. Colocalized with DDX1 in the nucleus upon TNF-alpha induction (By similarity) . Nuclear, but also found in the cytoplasm in an inactive form complexed to an inhibitor (I-kappa-B) . Colocalizes with GFI1 in the nucleus after LPS stimulation.