PAX2 Recombinant Rabbit mAb,PBS Only (SDT-6447)

Pax2 (paired box protein 2) is a transcription factor encoded by the PAX2 gene and belonging to the Pax gene family; it binds specific DNA sequences through its paired domain and plays key regulatory roles in embryonic development. Pax2 is mainly expressed in the developing kidney, ureter, eye, ear, and central nervous system, and is a core regulator of kidney development, participating in ureteric bud branching morphogenesis, nephron progenitor differentiation, and mesenchymal-to-epithelial transition. In human disease, haploinsufficiency of PAX2 causes autosomal dominant renal-coloboma syndrome, characterized by renal hypoplasia, optic nerve coloboma, and hearing loss, with approximately 92% of patients showing structural or functional renal abnormalities. In addition, Pax2 expression is downregulated in normal mature kidney tissue but is re-expressed or aberrantly activated in proliferative kidney diseases such as renal cell carcinoma, Wilms tumor, and polycystic kidney disease; inhibiting Pax2 can reduce renal cancer cell proliferation and increase chemosensitivity. In breast cancer, hypermethylation of the PAX2 promoter leads to reduced expression, which is associated with tamoxifen resistance and poor prognosis.