Article
Uromodulin-associated kidney disease.
Nephron. Clinical practice - 1 Jan 2011
Bleyer Anthony J, Zivná Martina, Kmoch Stanislav
Abstract excerpt
Uromodulin (Tamm-Horsfall glycoprotein) is the most common protein excreted in the urine of healthy individuals, yet its function remains unclear. Mutations in the UMOD gene encoding uromodulin result in a marked decrease in the synthesis of uromodulin, as well as the accumulation of abnormal uromodulin in tubular cells, leading to tubular cell death. UMOD gene mutations are responsible for the autosomal dominant...
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