This gene encodes uromodulin, the most abundant protein innnormal urine. Its excretion in urine follows proteolytic cleavagenof the ectodomain of its glycosyl phosphatidylinosital-anchoredncounterpart that is situated on the luminal cell surface of thenloop of Henle. Uromodulin may act as a constitutive inhibitor ofncalcium crystallization in renal fluids. Excretion of uromodulin innurine may provide defense against urinary tract infections causednby uropathogenic bacteria. Defects in this gene are associated withnthe autosomal dominant renal disorders medullary cystic kidneyndisease-2 (MCKD2) and familial juvenile hyperuricemic nephropathyn(FJHN). These disorders are characterized by juvenile onset ofnhyperuricemia, gout, and progressive renal failure. While severalntranscript variants may exist for this gene, the full-lengthnnatures of only two have been described to date. These twonrepresent the major variants of this gene and encode the samenisoform.
应用类型
WB,IHC
免疫原
This UMOD antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 352-380 amino acids from the Central region of human UMOD.
