PAX2 Antibody – Rabbit Polyclonal

PAX2 encodes paired box gene 2, one of many human homologues of the Drosophila melanogaster gene prd. The central feature of this transcription factor gene family is the conserved DNA-binding paired box domain. PAX2 is believed to be a target of transcriptional supression by the tumor suppressor gene WT1. Mutations within PAX2 have been shown to result in optic nerve colobomas and renal hypoplasia. Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Dec 2014]

PAX2: Probable transcription factor that may have a role in kidney cell differentiation. Has a critical role in the development of the urogenital tract, the eyes, and the CNS. Interacts with ELGN3; the interaction targets PAX2 for destruction. Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system. 4 isoforms of the human protein are produced by alternative splicing.

Chromosomal Location of Human Ortholog: 10q24

Cellular Component: Golgi apparatus; lysosome; microtubule organizing center; nucleolus; nucleus; protein complex

Molecular Function: DNA binding; protein binding; superoxide-generating NADPH oxidase activity; transcription factor binding

Biological Process: aging; axonogenesis; brain morphogenesis; camera-type eye development; cell fate determination; glial cell differentiation; inner ear morphogenesis; mesodermal cell fate specification; mesonephros development; negative regulation of apoptosis; negative regulation of caspase activity; negative regulation of cytolysis; negative regulation of programmed cell death; negative regulation of transcription, DNA-dependent; neural tube closure; optic cup morphogenesis involved in camera-type eye development; optic nerve development; optic nerve morphogenesis; optic nerve structural organization; positive regulation of epithelial cell proliferation; positive regulation of transcription from RNA polymerase II promoter; positive regulation of transcription, DNA-dependent; pronephros development; protein kinase B signaling cascade; response to nutrient levels; stem cell differentiation; transcription from RNA polymerase II promoter; transcription, DNA-dependent; ureteric bud branching; urogenital system development; vestibulocochlear nerve formation; visual perception

Disease: Focal Segmental Glomerulosclerosis 7; Papillorenal Syndrome; Renal Hypodysplasia/aplasia 1