PAX2 Antibody – Rabbit Polyclonal

Function: 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.

Subunit structure: Interacts with ELGN3; the interaction targets PAX2 for destruction. Ref.8

Subcellular location: Nucleus.

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

Developmental stage: Mainly in fetal kidney and juvenile nephrogenic rests.

Involvement in disease: Renal-coloboma syndrome (RCS) [MIM:120330]: 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.Note: The disease is caused by mutations affecting the gene represented in this entry. Ref.10 Ref.13 Ref.14 Ref.15Defects in PAX2 can be responsible for isolated renal hypodysplasia and oligomeganephronia (OMN). This is a rare congenital and usually sporadic anomaly characterized by bilateral renal hypoplasia, with a reduced number of enlarged nephrons and without urinary tract abnormalities. Ref.12

Sequence similarities: Contains 1 paired domain.