familial juvenile hyperuricemic nephropathy

familial juvenile hyperuricemic nephropathy: autosomal dominant nephropathy of juvenile onset, with hyperuricemia that may cause gout, decreased glomerular filtration, hypertension, and eventual renal failure. It can be caused by mutation in the UMOD gene (locus: 16p12.3), which encodes Tamm-Horsfall protein (also called uromodulin) or can be caused by mutation in the REN gene (locus: 1q32), which encodes the enzyme renin.

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Tamm-Horsfall protein — Uromodulin, also known as UMOD, Tamm Horsfall protein (THP), or Tamm Horsfall mucoprotein, is a human gene.cite web | title = Entrez Gene: UMOD uromodulin (uromucoid, Tamm Horsfall glycoprotein)| url =… … Wikipedia
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HNF1B — HNF1 homeobox B (hepatocyte nuclear factor 1 homeobox B), also known as HNF1B or transcription factor 2 (TCF2), is a human gene. PBB Summary section title = summary text = TCF2 encodes transcription factor 2, a liver specific factor of the… … Wikipedia
Tamm-Horsfall-Protein — Uromodulin Größe 590 Aminosäuren; 64,3 kDa Precursor (640 aa) Isoformen 3 … Deutsch Wikipedia
Uromodulin — Masse/Länge Primärstruktur 590 Aminosäuren; 64,3 kDa … Deutsch Wikipedia

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