Recombinant Human Paired box protein Pax-2 (PAX2)

Uniprot Id

Q02962

Target Species

Human

Target Name

PAX2

Target Full Name

Paired box protein Pax-2

Target Function

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.

Target Involvement

Papillorenal syndrome (PAPRS); Focal segmental glomerulosclerosis 7 (FSGS7)

Target Subcellular Location

Nucleus.

Target Tissue Specificity

Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.

Target Research Area

Developmental Biology

Target Synonyms

PAX2; Paired box protein Pax-2

Target Background

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.