Home > A. Molecular pathology > UMOD
UMOD
16p12.3 MIM.191845
Wednesday 6 April 2011
The Tamm-Horsfall glycoprotein (Tamm and Horsfall, 1952), also referred to as uromodulin (UMOD), is a GPI-anchored glycoprotein and the most abundant protein in normal urine.
Uromodulin (UMOD), uropontin, and nephrocalcin are the 3 known urinary glycoproteins that affect the formation of calcium-containing kidney stones (MIM.167030)
Pathology
UMOD-associated kidney disease
germline mutations in
- familial juvenile hyperuricemic nephropathy (HNJF1; MIM.162000)
- glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM.609886)