UMOD Antibody

Code CSB-PA025616GA01HU
Size $600
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Product Details

Uniprot No.
Target Names
UMOD
Alternative Names
ADMCKD2 antibody; FJHN antibody; HNFJ antibody; HNFJ1 antibody; MCKD2 antibody; medullary cystic kidney disease 2 (autosomal dominant) antibody; Tamm Horsfall glycoprotein antibody; Tamm Horsfall urinary glycoprotein antibody; Tamm-Horsfall urinary glycoprotein antibody; THGP antibody; THP antibody; Umod antibody; Urehd1 antibody; urehr4 antibody; UROM_HUMAN antibody; uromodulin (uromucoid, Tamm-Horsfall glycoprotein) antibody; Uromodulin antibody; Uromodulin, secreted form antibody; Uromucoid antibody
Raised in
Rabbit
Species Reactivity
Human,Mouse,Rat
Immunogen
Human UMOD
Immunogen Species
Homo sapiens (Human)
Isotype
IgG
Purification Method
Antigen Affinity Purified
Concentration
It differs from different batches. Please contact us to confirm it.
Buffer
PBS with 0.02% Sodium Azide, 50% Glycerol, pH 7.3. -20°C, Avoid freeze / thaw cycles.
Tested Applications
ELISA,WB
Troubleshooting and FAQs
Storage
Upon receipt, store at -20°C or -80°C. Avoid repeated freeze.
Lead Time
Basically, we can dispatch the products out in 1-3 working days after receiving your orders. Delivery time maybe differs from different purchasing way or location, please kindly consult your local distributors for specific delivery time.

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Target Background

Function
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 that may play a role in the water barrier permeability. May serve as a receptor for binding and endocytosis of cytokines (IL-1, IL-2) and TNF. Facilitates neutrophil migration across renal epithelia.; In the urine, may contribute to colloid osmotic pressure, retards passage of positively charged electrolytes, prevents urinary tract infection and inhibits formation of liquid containing supersaturated salts and subsequent formation of salt crystals.
Gene References into Functions
  1. The frequency of UMOD rs4293393 variant with C allele was significantly higher in individuals with iabetic nephropathy . UMOD rs4293393 T>C variation might have a bearing on susceptibility to nephropathy in north Indian individuals with type 2 diabetes. PMID: 29578190
  2. these data support THP as an important negative regulator of neutrophil activation in the urinary tract, with dual functions to counteract bacterial colonization and suppress excessive inflammation within the urinary tract PMID: 28829050
  3. Homozygous UMOD mutation did not show a strikingly more severe clinical evolution nor was the near absence of urinary uromodulin associated with urinary tract infections or kidney stones. PMID: 28605509
  4. low serum concentration linked with chronic kidney disease PMID: 28858977
  5. we report a novel UMOD mutation in a Brazilian family with 11 affected members, and we discuss the importance of performing genetic testing in families with inherited kidney disease of unknown cause. PMID: 29513881
  6. Studied genetic association of uromodulin SNP in kidney function of patients with hypertension and cardiovascular disease. PMID: 28598953
  7. Single-nucleotide polymorphism in UMOD gene is associated with type 2 diabetes. PMID: 27448670
  8. Patients with Acute kidney injury tended to have lower sUMOD. Although sUMOD correlated significantly with kidney function in the early phase of severe acute pancreatitis (AP), measuring sUMOD did not allow to reliably predict AP severity or development PMID: 28613246
  9. UMOD gene variants in humans fulfill the criteria for ascribing a gene as causal of Hypertension. PMID: 27045027
  10. Allele C of rs11864909 was preferentialy transmitted from parents to the children with chronic tubulointerstinal nephritis. PMID: 28954491
  11. The missense mutation p.142R>R/Q in the uromodulin gene in patients with cast Nephropathy in Multiple Myeloma. PMID: 28914853
  12. Data show that one SNP (rs183962941), located in a non-coding region of uromodulin protein (UMOD), was nominally associated with end-stage renal disease (ESRD). PMID: 28609449
  13. THP appears to participate directly in complement inactivation by its ability to act as a cofactor for C3b degradation. PMID: 28742158
  14. High urinary uromodulin levels are associated with lower risk for UTI in older community-dwelling adults independent of traditional UTI risk factors. PMID: 28029393
  15. The uromodulin-CFH interaction enhanced the cofactor activity of CFH for factor I-mediated cleavage of C3b to inactivated C3b. PMID: 27113631
  16. These findings suggest that the levels of urinary microvesicle-bound uromodulin are associated with the severity of diabetic kidney disease. PMID: 28182086
  17. Data strongly suggest that the uromodulin ancestral allele, driving higher urinary excretion of uromodulin, has been kept at a high frequency because of its protective effect against urinary tract infections PMID: 26966016
  18. The frequency of uromodulin single nucleotide polymorphism rs13333226 GG/GA genotype was significantly higher and the frequency of G allele was much higher in the patients with end stage renal disease than in the controls. PMID: 27938332
  19. Serum uromodulin concentrations are closely correlated with estimated glomerular filtration rate, which is the recommended measure of renal function. As uromodulin is produced exclusively by renal tubular cells, the assessment of uromodulin levels in patients with chronic kidney disease may be an alternative method for evaluating the number of functioning nephrons. PMID: 27958261
  20. novel UMOD missense mutation c.457T>G, p.(Cys153Gly) in patients with chronic kidney disease; mutation leads to severely reduced serum uromodulin concentrations PMID: 27729211
  21. UMOD rs13333226 does not appear to be associated with preeclampsia in Han Chinese women. PMID: 27315129
  22. These data demonstrate that the membrane-bound serine protease hepsin is the enzyme responsible for the physiological cleavage of uromodulin. PMID: 26673890
  23. In essential hypertension there's a close negative relationship between lowered urine UMOD and increased serum inflammatory cytokines. PMID: 26617860
  24. the crystal structures of polymerization regions of human UMOD and mouse ZP2, an essential sperm receptor protein that is structurally related to UMOD but forms heteropolymers, are reported. PMID: 26811476
  25. UMOD: A significant effect of the rare p.V458L variant on the value of estimated glomerular filtration in elderly population was found. PMID: 26040415
  26. lower levels associated with nephrolithiasis PMID: 25935139
  27. The main and new finding of this study is the association of bilateral small caliber non-arteriosclerotic renal arteries with hyperuricemia due to a novel UMOD mutation causing intracellular accumulation of UMOD in distal tubular cells. PMID: 25671765
  28. significantly associated with kidney function decline [meta-analysis] PMID: 25493955
  29. Suggest that uromodullin may have a renal physiologic function related to its inhibitory effect on the NFkappaB pathway. PMID: 24648000
  30. Here, we reviewed the signal transduction pathway of UMOD and its role in the pathogenesis of kidney diseases. [review] PMID: 24849497
  31. Uromodulin has greater immunosuppressive activities than THP and lower inductive property in relation to activation of immune cells. PMID: 25840631
  32. UMOD does not play a role in IgA nephropathy pathogenesis nor progression. PMID: 25163389
  33. Wild-type uromodulin was efficiently trafficked to the cell surface in transfected tsA 201 cells, whereas the mutants were partially retained within the cell, and incompletely processed PMID: 25436415
  34. Homozygotes for the common G allele of rs12917707 had a 2.2 times greater risk of post-operative fluid overload after adjustment for clinical variables. A genetic risk score including 14 SNPS independently associated with post-operative fluid overload. PMID: 24628133
  35. the set of sequence specific transcription factors that regulate the uromodulin gene UMOD and their upstream binding locations are not well characterized. We built a high resolution map of its transcriptional regulation PMID: 24594405
  36. Urinary Tamm-Horsfall protein does not correlate with carotid artery intima media thickness in childhood type1 diabetes. PMID: 24667016
  37. Familial juvenile hyperuricemic nephropathy (FJHN) is a rare autosomal-dominant disease caused by mutations in the UMOD gene located at 16p11.2-12 that encodes for uromodulin, or Tamm-Horsfall glycoprotein. PMID: 24577984
  38. The UMOD gene was identified a novel heterozygous missense variant (c.187T>C; p.Cys63Arg) in exon 3. PMID: 23826568
  39. RESULTS: rs1260326 in GCKR (beta=1.30, P = 3.23E-03), rs17319721 in SHROOM3 (beta = -1.28, P-value = 3.18E-03) and rs12917707 in UMOD (beta = 2.0, P-value = 8.84E-04) were significantly associated with baseline estimated GFR. PMID: 23586973
  40. Genome-wide association studies identified uromodulin as a risk factor for chronic kidney disease (CKD) and hypertension, and suggested that the level of uromodulin in the urine could represent a useful biomarker for the development of CKD. PMID: 24697042
  41. Genetic susceptibility link to hypertension and chronic kidney disease to the level of uromodulin expression and uromodulin's effect on salt reabsorption in the kidney. PMID: 24185693
  42. The novel uromodulin mutations found in the Chinese families lead to misfolded protein, which was retained in the endoplasmic reticulum, finally contributed to the phenotype of familial juvenile hyperuricemic nephropathy. PMID: 23988501
  43. UMOD promoter variants seem to initiate a cascade of transcriptional and biochemical changes influencing UMOD secretion, leading to altered plasma uric acid levels. PMID: 23344472
  44. Mutant uromodulin is secreted in the urine of patients with familial hyperuricemic nephropathy and induces the formation of extracellular aggregates PMID: 22538938
  45. Data indicate that Tamm-Horsfall Protein (THP) binds to urinary catheters and facilitates the binding of uropathogenic bacteria to catheters. PMID: 23009031
  46. The rs12917707 minor allele showed association with lower risk of end-stage renal disease. PMID: 22947327
  47. uromodulin is a NLRP3 agonist handled by antigen-presenting cells as an immunostimulatory nanoparticle PMID: 22997256
  48. The present study reported a novel mutation in exon 9 of UMOD in the Chinese Han population, within the GPI anchor signal segment of uromodulin. PMID: 22776760
  49. It was shown that common variants of uromodulin are associated with diastolic blood pressure in a community-based Chinese cohort. Urinary uromodulin was correlated with urinary sodium. PMID: 22592667
  50. association of estimated glomerular filtration rate and urinary uromodulin concentrations with rare variants in UMOD gene PMID: 22693617

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Involvement in disease
Familial juvenile hyperuricemic nephropathy 1 (HNFJ1); Medullary cystic kidney disease 2 (MCKD2); Glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI)
Subcellular Location
Apical cell membrane; Lipid-anchor, GPI-anchor. Basolateral cell membrane; Lipid-anchor, GPI-anchor. Cell projection, cilium membrane.; [Uromodulin, secreted form]: Secreted.
Tissue Specificity
Expressed in the tubular cells of the kidney. Most abundant protein in normal urine (at protein level). Synthesized exclusively in the kidney. Expressed exclusively by epithelial cells of the thick ascending limb of Henle's loop (TALH) and of distal convo
Database Links

HGNC: 12559

OMIM: 162000

KEGG: hsa:7369

STRING: 9606.ENSP00000306279

UniGene: Hs.654425

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