基因名:
PAX2
产品别名:
FSGS7; PAPRS; PAX-2; PAX2; paired box 2; paired box 2; paired box protein Pax-2; paired box homeotic gene 2; 配对盒基因2;
背景信息:
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]