PAX2 Antibodies

Structure of PAX2

PAX2 is a transcription factor protein with a molecular weight of approximately 48 kDa. Its precise molecular weight varies slightly among different species, mainly due to the conservation of DNA-binding domains and species-specific variations in regulatory regions.

The PAX2 protein is composed of approximately 400 amino acids. Its core structure consists of a highly conserved DNA-binding pairing cassette (PAX) domain and a partially conserved octapeptide domain, which jointly regulate the expression of downstream target genes. The DNA binding ability of this protein depends on the combination of β -folding and α -helix at its N-terminal, while the transcriptional activation region at the C-terminal regulates the developmental signaling pathway through protein-protein interactions. PAX2 shows a dynamic expression pattern in the development of embryonic renal ducts, optic vesicles and midbrain, and its functional deficiency can lead to abnormal organ development.

Fig. 1 Genetic variants of PAX2 that associated with kidney disease. ¹

Key structural properties of PAX2:

• Conserved DNA-binding domains
• Octapeptide motif regulatory region
• Verified location signal
• Phosphorylation modification site

Functions of PAX2

The core function of the PAX2 gene is to act as a transcriptional regulatory factor in embryonic development, especially playing a key role in organ formation. At the same time, it also involves processes such as cell differentiation, maintenance of tissue homeostasis and disease occurrence.

The expression of PAX2 shows strict spatiotemporal specificity, and its dose sensitivity is manifested as follows: insufficient haploid leads to developmental defects, while overexpression may induce cancer. This gene guides the establishment of the three-dimensional configuration of target organs in a gradient-dependent manner by regulating signaling pathways such as GDNF and WNT.

Applications of PAX2 and PAX2 Antibody in Literature

1. Deng, Haiyue, et al. "Diverse phenotypes in children with PAX2-related disorder." Molecular Genetics & Genomic Medicine 7.6 (2019): e701. https://doi.org/10.1002/mgg3.701

This study retrospectively analyzed the clinical data of 10 children with PAX2 gene mutations and found that their phenotypes were diverse, including renal abnormalities (hypoplasia, cysts), ocular lesions and new phenotypes (skeletal deformities, ovarian teratoma, ventricular septal defect, etc.). It is reported for the first time that gout can be the initial symptom, and most of the mutations are de novo variations, suggesting that the diagnosis of this disease should be considered even without a family history. The research has expanded the phenotypic spectrum of PAX2-related diseases.

2. Muntean, Carmen, et al. "PAX2 Gene Mutation in Pediatric Renal Disorders—A Narrative Review." International Journal of Molecular Sciences 24.16 (2023): 12737. https://doi.org/10.3390/ijms241612737

This study found that the PAX2 gene is a key transcription factor in the development of the urinary system, and its mutation can lead to congenital malformations of the kidneys and urinary tract. This article focuses for the first time on pediatric cases of PAX2 mutations that only present with renal/urinary tract lesions, excluding patients with multiple organ involvement, providing a new perspective for revealing the pathogenic mechanism of this gene.

3. Negrisolo, Susanna, and Elisa Benetti. "PAX2 and CAKUT phenotypes: report on two New variants and a review of mutations from the Leiden Open Variation Database." International Journal of Molecular Sciences 24.4 (2023): 4165.https://doi.org/10.3390/ijms24044165

This study found that mutations in the PAX2 gene can lead to abnormal kidney development and ocular and ear deformities (papillary kidney syndrome). This study found that 5.8% of 53 children with CAKUT carried PAX2 variations, including 2 novel mutations, confirming that their phenotypic heterogeneity was high, and even the manifestations of monozygotic twins could be different.

4. Zhang, Li, et al. "New PAX2 heterozygous mutation in a child with chronic kidney disease: a case report and review of the literature." BMC nephrology 19.1 (2018): 245.https://doi.org/10.1186/s12882-018-1044-9

This study reports a 3-year-old male child with a novel missense mutation of PAX2 (Exon4 c.418C>G), presenting with chronic kidney disease and renal atrophy. His father suffered from renal failure at the age of 20, confirming that the mutation is hereditary and expanding the understanding of the pure renal phenotype of the PAX2 mutation.

5. Yamamura, Yuta, et al. "Identification of candidate PAX2-regulated genes implicated in human kidney development." Scientific reports 11.1 (2021): 9123.https://doi.org/10.1038/s41598-021-88743-1

This study reports that the mechanism by which PAX2 gene mutations lead to renal defect syndrome (RCS) remains unclear. In this study, 189 differential promoters and 71 differential enhancers were screened out through the iPSC model, and PBX1, POSTN and ITGA9 were identified as the key target genes of PAX2 regulating renal development, providing new clues for revealing the pathogenesis of RCS.

Creative Biolabs: PAX2 Antibodies for Research

Creative Biolabs specializes in the production of high-quality PAX2 antibodies for research and industrial applications. Our portfolio includes monoclonal antibodies tailored for ELISA, Flow Cytometry, Western blot, immunohistochemistry, and other diagnostic methodologies.

• Custom PAX2 Antibody Development: Tailor-made solutions to meet specific research requirements.
• Bulk Production: Large-scale antibody manufacturing for industry partners.
• Technical Support: Expert consultation for protocol optimization and troubleshooting.
• Aliquoting Services: Conveniently sized aliquots for long-term storage and consistent experimental outcomes.

For more details on our PAX2 antibodies, custom preparations, or technical support, contact us at email.