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 supressor 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, Jul 2008]

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: protein complex; lysosome; microtubule organizing center; nucleus

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

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

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