Uromodulin (UMOD) Antibody – Rabbit Polyclonal

The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]

UMOD: Uromodulin: Functions in biogenesis and organization of the apical membrane of epithelial cells of the thick ascending limb of Henle's loop (TALH), where it promotes formation of complex filamentous gel-like structure providing the water barrier permeability. May serve as a receptor for binding and endocytosis for cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelial. Defects in UMOD are the cause of familial juvenile hyperuricemic nephropathy type 1 (HNFJ1). HNFJ1 is a renal disease characterized by juvenil onset of hyperuricemia, polyuria, progressive renal failure, and gout. The disease is associated with interstitial pathological changes resulting in fibrosis. Defects in UMOD are the cause of medullary cystic kidney disease type 2 (MCKD2). MCKD2 is a form of tubulointerstitial nephropathy characterized by formation of renal cysts at the corticomedullary junction. It is characterized by adult onset of impaired renal function and salt wasting resulting in end-stage renal failure by the sixth decade. Defects in UMOD are the cause of glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI). GCKDHI is a renal disorder characterized by a cystic dilation of Bowman space, a collapse of glomerular tuft, and hyperuricemia due to low fractional excretion of uric acid and severe impairment of urine concentrating ability. 4 isoforms of the human protein are produced by alternative splicing.

Protein type: Membrane protein, GPI anchor

Chromosomal Location of Human Ortholog: 16p12.3

Cellular Component: spindle pole; Golgi apparatus; extracellular space; extrinsic to membrane; basolateral plasma membrane; apical plasma membrane; cytoplasmic vesicle; lipid raft

Molecular Function: IgG binding; calcium ion binding

Biological Process: heterophilic cell adhesion; response to organic substance; negative regulation of cell proliferation; leukocyte adhesion; cellular defense response; excretion; chemical homeostasis

Disease: Hyperuricemic Nephropathy, Familial Juvenile, 1; Glomerulocystic Kidney Disease With Hyperuricemia And Isosthenuria; Medullary Cystic Kidney Disease 2