Uromodulin (UMOD) ELISA Kit for Mouse

This gene encodes a glycoprotein that is the most abundant protein in mammalian urine under physiological conditions. It is synthesized in the kidney as a glycosyl-phosphatidylinositol anchored protein and released into urine as a soluble form by proteolytic cleavage. It is thought to regulate water and salt balance in the thick ascending limb of Henle and to protect against urinary tract infection and calcium oxalate crystal formation. In mouse deficiency of this gene is associated with increased susceptibility to bacterial infections and formation of calcium crystals in kidneys. Alternative splicing 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: 7 F2|7 63.88 cM

Cellular Component: apical part of cell; apical plasma membrane; basolateral plasma membrane; cell projection; cilium; cytoplasmic vesicle; extracellular region; extracellular space; Golgi apparatus; membrane; membrane raft; plasma membrane; spindle pole

Molecular Function: calcium ion binding; IgG binding

Biological Process: chemical homeostasis; excretion; heterophilic cell-cell adhesion via plasma membrane cell adhesion molecules; leukocyte adhesion