PAX3 Antibody
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Product Specs
Buffer
PBS with 0.1% Sodium Azide, 50% Glycerol, pH 7.3. Stored at -20°C. Avoid freeze-thaw cycles.
Lead Time
Typically, we can ship products within 1-3 business days after receiving your order. Delivery time may vary depending on the purchasing method or location. For specific delivery times, please contact your local distributor.
Synonyms
CDHS antibody; HUP 2 antibody; HUP2 antibody; MGC120381 antibody; MGC120382 antibody; MGC120383 antibody; MGC120384 antibody; MGC134778 antibody; Paired box 3 antibody; Paired box gene 3 antibody; Paired box homeotic gene 3 antibody; Paired box protein Pax 3 antibody; Paired box protein Pax-3 antibody; Paired box protein Pax3 antibody; Paired domain gene 3 antibody; Paired domain gene HuP2 antibody; PAX 3 antibody; Pax3 antibody; PAX3/FKHR fusion gene antibody; PAX3_HUMAN antibody; Sp antibody; splotch antibody; Waardenburg syndrome 1 antibody; WS 1 antibody; WS1 antibody; WS3 antibody
Target Names
Uniprot No.
Target Background
Function
PAX3 is a transcription factor that potentially regulates cellular processes including proliferation, migration, and apoptosis. It is involved in neural development and myogenesis. PAX3 functions as a transcriptional activator of MITF, working synergistically with SOX10.
Gene References Into Functions
- This review explores the current understanding of potential therapeutic targets that might indirectly interfere with PAX3-FOXO1 activity in alveolar rhabdomyosarcoma at various molecular levels. These findings can be extrapolated to fusion transcription factors in general. PMID: 29146205
- Research indicates that GILT expression is necessary for downregulation of PAX-3 proteins in late-stage human melanoma cells. GILT co-localizes with PAX-3 proteins, regulating its expression through the autophagy and lysosomal degradation pathway in human melanoma cells. PMID: 28857256
- Findings demonstrate that serum levels of miR-658 are significantly lower in the NM group compared to the DM group. Additionally, the levels of PAX3 and MET are also lower in the NM group. Overexpression and silencing of miR-658 significantly upregulate or downregulate the levels of PAX3 and MET in gastric cell lines. PMID: 29630524
- The miR-362-3p/Pax3 axis regulates cell viability, migration, and invasion of HTR8/SVneo cells under hypoxic conditions. PMID: 29665647
- In spinal cord tissue, lower PAX3 expression, higher p53 expression, and increased levels of cleaved caspase 3(17kD) and cleaved caspase 8 (18kD) were observed in anencephaly cases, but not in spina bifida cases, when compared to controls. PMID: 28786179
- PAX3 plays a significant regulatory role in the development, maintenance, and progression of specific tumors, potentially linked to its role in normal development. [review] PMID: 29730428
- The PAX3-FOXO1 fusion protein acts as a driver mutation, initiating a cascade of mRNA and miRNA changes that ultimately reprogram proliferating myoblasts, leading to the formation of alveolar rhabdomyosarcoma. PMID: 27588498
- Cells harboring the fusion gene exhibit selective sensitivity to small-molecule inhibition of protein targets induced by or bound to PAX3-FOXO1-occupied super enhancers. Moreover, PAX3-FOXO1 recruits and requires the BET bromodomain protein BRD4 to function at super enhancers, resulting in complete dependence on BRD4 and significant susceptibility to BRD inhibition. PMID: 28446439
- The boundaries of these novel topologically associating domains (TADs) correspond to the original 5'- and 3'- borders of the PAX3 and FOXO1 TADs, respectively. This suggests that TAD organization precedes the formation of regulatory long-range interactions. The results demonstrate that upon translocation, novel regulatory landscapes are formed, allowing new intra-TAD interactions between the original loci involved. PMID: 28615069
- The identified novel EYA4 mutation is considered responsible for the hearing loss observed in the proband and her father. A dual molecular diagnosis was reached in the relatives co-segregating the EYA4 and the PAX3 mutations. PMID: 29287889
- The transcription factor PAX3 (PAX3) exerts its tumor suppressor function by inhibiting the activity of major signaling pathways and enhancing expression and activity of the transcription factor forkhead box O3 protein (FOXO3a). PMID: 27458157
- These previously unreported digenic mutations in PAX3/GJB2 resulted in deafness associated with Waardenburg syndrome type I in this family. PMID: 29287868
- A study identified a novel heterozygous mutation of the PAX3 gene causing dysfunction of PAX3 transcription in patients with Waardenburg syndrome type 1. These results indicate that the loss-of-function may be resulting from deletion of the transcription activation domain. PMID: 29158168
- The absence of a PAX3 mutation in one patient with WS1 highlights the fact that clinical classification is sometimes insufficient to distinguish WS1 from other WS types. Hence, sequencing other WS genes in this patient is of interest. PMID: 29224756
- A patient with Waardenburg syndrome type 1 caused by a novel missense variant in PAX3 is presented, exhibiting myelomeningocele, Arnold-Chiari malformation, and hydrocephalus at birth. PMID: 28686331
- The studies identify a P/CAF-PAX3-FOXO1 signaling node that promotes oncogenesis and may contribute to MyoD dysfunction in Alveolar rhabdomyosarcoma (ARMS). PMID: 27453350
- PAK3 mutation has a role in intellectual disability and macrocephaly in monozygotic twins [family case report with two affected patients]. PMID: 28126652
- Pax3 regulates GFAP expression. PMID: 27432276
- A novel compound heterozygous mutation c.[169_170insC;172_174delAAG] (p.His57ProfsX55) was identified which co-segregated with Waardenburg syndrome type I in a Chinese family. PMID: 26824486
- FOXD3 is sufficient but not necessary to drive PAX3 expression in melanoma cells. PMID: 26252164
- Secreted Frizzled-Related Protein 3 (SFRP3) Is Required for Tumorigenesis of PAX3-FOXO1-Positive Alveolar Rhabdomyosarcoma. PMID: 26071485
- Findings suggest a tumor suppressor role for APC/C(Cdh1) in melanocytes and that targeting PAX3 may be a strategy for treating melanoma. PMID: 26329581
- PAX3 phosphorylation plays a role in determining melanoma phenotypes by affecting proliferation, invasion, and transformation. PMID: 24903325
- All affected members of pedigree IR-WS-20 carried the mutation c.1024_1040 del AGCACGATTCCTTCCAA in exon 7 of PAX3, while none of the unaffected members and 50 of the ethnic matched controls tested had this deletion. PMID: 26279250
- PAX3 differentially regulates various downstream target genes involved in cell proliferation in melanoma cells compared to melanocytes. PMID: 25880082
- The results expand the spectrum of PAX3 mutations and may have implications for genetic counseling of Waardenburg syndrome in Iran. PMID: 26275939
- Report novel PAX3-NCOA1 gene fusions in biphenotypic sinonasal sarcomas with focal rhabdomyoblastic differentiation. PMID: 26371783
- PAX3-FOXO1 may contribute to tumor formation. PMID: 25806826
- Mutation associated with single-side deafness. PMID: 26512583
- Data show that transcription factors PAX3 and FOXD3-mediated melanoma cell migration is dependent on promoting the expression of chemokine receptor CXCR4. PMID: 26205821
- Findings suggest that PAX3 WS mutants interfere with the normal functions of PAX3 in a dominant negative manner, which is important to the understanding of the pathogenesis of Waardenburg syndrome. PMID: 26149688
- A pathway is discovered where ETS1 advances melanoma through the expression of MET via PAX-dependent and -independent mechanisms. PMID: 25531327
- Results suggest that regional Pax3 expression not only marks a novel subset of High-grade Brainstem Glioma but also contributes to PDGF-B-induced brainstem gliomagenesis. PMID: 25330836
- Genome-wide association analyses identified four suggestive loci (PAX3, CCRN4L, PIGQ, and ADAM19) as determinants of disease progression in Alzheimer's disease. PMID: 25114068
- Indeed, more fusion genes were generated in fore limb myoblasts via a reciprocal t(1;3), which expressed correctly spliced Pax3-Foxo1 mRNA encoding Pax3-Foxo1 fusion protein. PMID: 25659124
- It is likely that Cx43 and Pax3 play critical roles in cell proliferation and differentiation during the processes of chorionic villi initiation/development and placental morphogenesis. PMID: 25227101
- Human melanocytes migrated and formed reversible paired box 3 (PAX3) expressing cell clusters on three-dimensional Matrigel. PMID: 25128984
- miR-206-PAX3-MET signaling is critical to GC metastasis. PMID: 25653235
- PLK1 interacted with and phosphorylated PAX3-FOXO1 at the novel site S503, leading to protein stabilization. PMID: 25398439
- The PAX3-NCOA2 fusion gene has a dual role in the tumorigenesis of rhabdomyosarcoma. PMID: 24213582
- These data support a model in which Pax3 is a new marker of human brown adipocyte progenitors and a molecular mediator of their fate. PMID: 24302443
- PAX3 and MITF are expressed in human melanoma cell lines but function independently to enhance the survival of melanoma cells. PMID: 21164369
- In breast phyllodes tumors, Six1 and Pax3 expression is correlated with tumor grade, unfavorable clinicopathological parameters, and poorer clinical outcome, suggesting that both proteins may play a role in malignant progression. PMID: 24438019
- EZH2 is a key factor in the proliferation and survival of PAX3-FOXO1 alveolar RMS cells working, at least in part, by repressing FBXO32. PMID: 24213577
- Recurrent PAX3-MAML3 fusion is associated with biphenotypic sinonasal sarcoma. PMID: 24859338
- A chimeric fusion RNA, PAX3-FOXO1, associated with alveolar rhabdomyosarcoma, is also present in normal non-cancer cells and tissue. When constantly expressed, PAX3-FOXO1 interfered with the muscle differentiation process, which presumably contributes to tumorigenesis. PMID: 24089019
- PAX3 might contribute to oncogenic characteristics of neuroblastoma cells by regulating a variety of crucial signaling pathways. PMID: 24188742
- Waardenburg syndrome types 1, 2, and 3 are associated with mutations of the PAX3 (paired box 3) gene on chromosome 2q35. (review) PMID: 24379252
- Single-nucleotide polymorphisms in PAX3 are associated with nevus number. PMID: 23751107
- JARID2 is a direct transcriptional target of the PAX3-FOXO1 fusion protein. PMID: 23435416
Database Links
Involvement In Disease
Waardenburg syndrome 1 (WS1); Waardenburg syndrome 3 (WS3); Craniofacial-deafness-hand syndrome (CDHS); Rhabdomyosarcoma 2 (RMS2)
Protein Families
Paired homeobox family
Subcellular Location
Nucleus.
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