Summary: A glycosyl-phosphatidyl-inositol (GPI) - anchored membrane protein found on the thick ascending limb of the LOOP OF HENLE. The cleaved form of the protein is found abundantly in URINE.
Piret S, Olinger E, Reed A, Nesbit M, Hough T, Bentley L, et al
. A mouse model for inherited renal fibrosis associated with endoplasmic reticulum stress. Dis Model Mech. 2017;10:773-786 pubmed publisher
..tubular disorder, referred to as autosomal dominant tubulointerstitial kidney disease (ADTKD) due to missense uromodulin (UMOD) mutations (ADTKD-UMOD)...
Schaeffer C, Merella S, Pasqualetto E, Lazarevic D, Rampoldi L. Mutant uromodulin expression leads to altered homeostasis of the endoplasmic reticulum and activates the unfolded protein response. PLoS ONE. 2017;12:e0175970 pubmed publisher
b>Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease...
Devuyst O, Olinger E, Rampoldi L. Uromodulin: from physiology to rare and complex kidney disorders. Nat Rev Nephrol. 2017;13:525-544 pubmed publisher
b>Uromodulin (also known as Tamm-Horsfall protein) is exclusively produced in the kidney and is the most abundant protein in normal urine...
Uto I, Ishimatsu T, Hirayama H, Ueda S, Nishi K, Tsuruta J, et al
. Urinary Tamm-Horsfall protein excretion in patients with primary vesicoureteral reflux. Eur Urol. 1991;19:315-8 pubmed
..The results suggested that serial measurements of urinary THP excretion and GFR by 99mTc-DTPA renal scintigraphy before and after antireflux surgery are useful for the evaluation of renal function in patients with primary VUR. ..
Muchmore A, Sathyamoorthy N, Decker J, Sherblom A. Evidence that specific high-mannose oligosaccharides can directly inhibit antigen-driven T-cell responses. J Leukoc Biol. 1990;48:457-64 pubmed
b>Uromodulin is an 85 Kd immunosuppressive glycoprotein originally isolated from human pregnancy urine. It is unique in that most of its biologic activity can be attributed to attached oligosaccharides...
Chang C, Chen C, Huang C, Wu C, Wu H, Chiu P, et al
. Urinary glycated uromodulin in diabetic kidney disease. Clin Sci (Lond). 2017;131:1815-1829 pubmed publisher
..Advanced glycation end-products (AGEs) form during oxidative stress, which is increased in diabetes mellitus (DM). Uromodulin is a protein with a renal protective effect, and may be subject to glycation...
Bailie C, Kilner J, Maxwell A, McKnight A. Development of next generation sequencing panel for UMOD and association with kidney disease. PLoS ONE. 2017;12:e0178321 pubmed publisher
..Analysis of methylation data for over 480,000 CpG sites revealed differential methylation patterns within UMOD, the most significant of these was cg03140788 p = 3.7 x 10-10. ..
Rhodes D. Human Tamm-Horsfall protein, a renal specific protein, serves as a cofactor in complement 3b degradation. PLoS ONE. 2017;12:e0181857 pubmed publisher
Johnson B, Dang L, Marsh G, Roach A, Levine Z, Monti A, et al
. Uromodulin p.Cys147Trp mutation drives kidney disease by activating ER stress and apoptosis. J Clin Invest. 2017;127:3954-3969 pubmed publisher
b>Uromodulin-associated kidney disease (UAKD) is caused by mutations in the uromodulin (UMOD) gene that result in a misfolded form of UMOD protein, which is normally secreted by nephrons...