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Article

Defective Intracellular Trafficking of Uromodulin Mutant Isoforms

30 Aug 2006

Abstract excerpt

Medullary cystic kidney disease/familial juvenile hyperuricemic nephropathy (MCKD/FJHN) are autosomal dominant renal disorders characterized by tubulo-interstitial fibrosis, hyperuricemia and medullary cysts. They are caused by mutations in the gene encoding uromodulin, the most abundant protein in urine. Uromodulin (or Tamm-Horsfall protein) is a glycoprotein that is exclusively expressed by epithelial tubular...

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PMID: 17010121
DOI: 10.1111/j.1600-0854.2006.00481.x

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