Ask about this productRelated genes to: UMOD antibody
- Gene:
- UMOD NIH gene
- Name:
- uromodulin
- Previous symbol:
- -
- Synonyms:
- -
- Chromosome:
- 16p12.3
- Locus Type:
- gene with protein product
- Date approved:
- 1992-07-27
- Date modifiied:
- 2015-08-26
Related products to: UMOD antibody
Related articles to: UMOD antibody
- Autosomal dominant tubulointerstitial kidney disease -UMOD is characterized by progressive renal interstitial inflammation and fibrosis. However, its underlying mechanisms remain unclear. Here, we identify a large ADTKD pedigree harboring a novel UMOD p.H36Y mutation. Using CRISPR/Cas9 technology, we generated a Umod mouse model that recapitulates the key phenotypes observed in affected individuals, including renal dysfunction, cyst formation, and interstitial inflammation. Multi-omics analyses in kidneys from male Umod mice revealed marked macrophage pyroptosis. Mechanistically, the Umod p.H36Y variant activated the amyloid precursor protein (App)-Cd74 axis which mediated the crosstalk between renal mutant tubular cells and macrophages. This axis sustains NF-κB pathway activation in macrophages, initiating pyroptosis and pro-inflammatory cytokine release. The same mechanism is recapitulated in the UMOD p.Trp31Cys cell model. Notably, Pharmacologic inhibition using ARN2966, a small-molecule App inhibitor, attenuated renal injury in male Umod mice. Collectively, these findings uncover a targetable pathway in ADTKD-UMOD. - Source: PubMed
Publication date: 2026/04/29
Wu Qian-QianPeng Si-QiZhang Yi-LinYang YanShi WenWen Xian-LiLiu Zhi-YingZhou Xu-JieZheng Ming-ZhuHu Li-DanLi Xiao-MinCao Jing-YuanWang Xin-LuYang Jun-LanWei Jin-XuanShen Jun-YuanWang Xiao-XuLiu Bi-ChengZhang Xiao-LiangWang Bin - Beef flavor is a trait difficult to evaluate since different senses (taste, touch, and smell) are involved in its perception. In the last 20 years, 102 Quantitative Trait Loci (QTLs), associated with the variability of different beef flavor notes, have been reported. These QTLs are spread on all chromosomes, including BTA X. In these QTL regions, 2509 genes are located and, among them, 594 are involved in the metabolic processes of lipids, proteins, and carbohydrates, the main meat components for the production of volatile substances responsible for flavor. Only 19 of these genes (, , , , , , , , , , , , , , , , , , and ) are also present in the QTL regions affecting pork flavor. The applied approach allowed us to strongly restrict the number of candidate genes to affect the variability of both beef and pork flavor. - Source: PubMed
Publication date: 2026/03/25
Rando AndreaGrassi GiuliaPerna Anna MariaDi Gregorio Paola - Autosomal dominant tubulointerstitial kidney disease (ADTKD) is a rare hereditary disorder characterized by slowly progressive loss of kidney function with absent or mild proteinuria and tubulointerstitial fibrosis. Mutations in the gene represent one of the primary genetic etiologies of ADTKD. This study presented the clinical data and genetic variant interpretation of three ADTKD patients diagnosed a next-generation sequencing (NGS)-based diagnostic workflow at the Department of Nephrology, Zhejiang Provincial People's Hospital, along with a review of relevant literature. Genetic analysis revealed three heterozygous UMOD variants: a novel p. Tyr559Cys, a variant previously recorded in databases (p. Ala500Val) but with limited clinical details, and a previously published variant (p. Leu66Pro) in a new family. This report contributes to expanding the mutation spectrum of and highlights its phenotypic variability, thereby enhancing clinical recognition and promoting timely diagnosis. - Source: PubMed
Publication date: 2026/04/09
Yu YedongGong JianguangLiu LinShao LinaShen XiaogangZhu Bin - Inherited Kidney Disease (IKD) significantly contributes to CKD in children, adolescents, and adults. However, large-scale research on the prevalence of IKD in a Chinese population is currently lacking. To address this gap, we use exome sequencing (ES) to thoroughly investigate the prevalence and disease spectrum of IKD in a Chinese population. - Source: PubMed
Publication date: 2026/04/01
Liu ZiqiZhuang JingYang YanAierken AilimaWang FengmeiLi ZuolinYin QingTu YanJiang HongWang Bin - Uromodulin is a kidney-specific protein that is excreted in the normal urine. Factors regulating its excretion are unknown. Conflicting studies suggest that water balance may influence uromodulin excretion which, in turn, may cooperate with vasopressin to increase water reabsorption in the distal nephron. We analyzed the interplay between uromodulin excretion and water balance in a healthy adult population. Participants were recruited in a population-based study in Switzerland. The urine uromodulin excretion rate (UUER) (mg/24 h) was measured (ELISA) in parallel with urine osmolality and serum copeptin (pmol/L) (immune-luminometric assay) as a surrogate for vasopressin. Mixed multi-variate linear regression models were used. We included 937 participants with 497 (53.0%) women, median age 47.7 years (32.4-61.6) and 27 (2.8%) with eGFR <60 mL/min/1.73m. In univariate analysis, UUER was positively associated with urine volume (p < 0.001) and negatively with serum copeptin concentration (p < 0.001). In fully adjusted analysis, UUER remained positively associated with urine volume (p = 0.004) but not with serum copeptin concentration (p = 0.224). In univariate analysis, urine osmolality was negatively associated with UUER (p = 0.016). In fully adjusted analysis, namely accounting for serum copeptin and urine volume, urine osmolality was positively associated with UUER (p = 0.001). These results indicate that, in a healthy population, urine uromodulin excretion strongly associates with urine volume and, once accounting for confounding factors, influences urine osmolality in addition to vasopressin/copeptin levels. These data substantiate the role of urine flow in regulating uromodulin excretion and suggest an additive effect of uromodulin on urine concentration, alongside vasopressin. - Source: PubMed
Jaques David APasquier ThéodorePruijm MennoAckermann DanielBochud MurielleDevuyst OlivierPonte Belen