Article
Mutations of the Uromodulin gene in MCKD type 2 patients cluster in exon 4, which encodes three EGF-like domains.
Kidney international - 1 Nov 2003
Wolf Matthias T F, Mucha Bettina E, Attanasio Massimo, Zalewski Isabella, Karle Stephanie M, Neumann Hartmut P H, Rahman Nazneen, Bader Birgit, Baldamus Conrad A, Otto Edgar, Witzgall Ralph, Fuchshuber Arno, Hildebrandt Friedhelm
Abstract excerpt
BACKGROUND: Autosomal-dominant medullary cystic kidney disease type 2 (MCKD2) is a tubulointerstitial nephropathy that causes renal salt wasting, hyperuricemia, gout, and end-stage renal failure in the fifth decade of life. The chromosomal locus for MCKD2 was localized on chromosome 16p12. Within this chromosomal region, Uromodulin (UMOD) was located as a candidate gene. UMOD encodes the Tamm-Horsfall protein. By...
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