Pax2 è un gene codificato dal simbolo PAX2. È noto anche come Paired box protein Pax-2. Pax2 ha una massa di 44.71kDa, una lunghezza di amminoacidi di 417, ed è implicato nella malattia: Papillorenal syndrome; Focal segmental glomerulosclerosis 7.
Offriamo 28 anticorpi contro Pax2, allevati nel Coniglio e Topo, che sono adatti per WB, IHC, ELISA, ICC/IF e IP con campioni derivati da Umano, Topo, Ratto e Scimmia.
Informazioni su geni e proteine
Riepilogo UniProt
Transcription factor that may have a role in kidney cell differentiation (PubMed:24676634). Has a critical role in the development of the urogenital tract, the eyes, and the CNS.
Sommario di Entrez
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.
Specificità del tessuto
Expressed in primitive cells of the kidney, ureter, eye, ear and central nervous system.
Coinvolgimento nella malattia
Papillorenal syndrome: An autosomal dominant disorder characterized by both ocular and renal anomalies, but may also include vesicoureteral reflux, high frequency hearing loss, central nervous system anomalies, and/or genital anomalies. Eye anomalies in this disorder consist of a wide and sometimes excavated dysplastic optic disk with the emergence of the retinal vessels from the periphery of the disk, designated optic nerve coloboma or 'morning glory' anomaly. Associated findings may include a small corneal diameter, retinal coloboma, scleral staphyloma, optic nerve cyst, microphthalmia, and pigmentary macular dysplasia. The kidneys are small and abnormally formed (renal hypodysplasia), and have fewer than the normal number of glomeruli, which are enlarged (oligomeganephronia). These ocular and renal anomalies result in decreased visual acuity and retinal detachment, as well as hypertension, proteinuria, and renal insufficiency that frequently progresses to end-stage renal disease.
Focal segmental glomerulosclerosis 7: A renal pathology defined by the presence of segmental sclerosis in glomeruli and resulting in proteinuria, reduced glomerular filtration rate and progressive decline in renal function. Renal insufficiency often progresses to end-stage renal disease, a highly morbid state requiring either dialysis therapy or kidney transplantation.
Posizione cellulare
Nucleus.
