Gene Symbol | UMOD |
Entrez Gene ID | 7369 |
Full Name | uromodulin |
Synonyms | ADMCKD2,FJHN,HNFJ,HNFJ1,MCKD2,THGP,THP |
General protein information |
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Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
Summary | The protein encoded by this gene is the most abundant protein in mammalian urine under physiological conditions. Its excretion in urine follows proteolytic cleavage of the ectodomain of its glycosyl phosphatidylinosital-anchored counterpart that is situated on the luminal cell surface of the loop of Henle. This protein may act as a constitutive inhibitor of calcium crystallization in renal fluids. Excretion of this protein in urine may provide defense against urinary tract infections caused by uropathogenic bacteria. Defects in this gene are associated with the renal disorders medullary cystic kidney disease-2 (MCKD2), glomerulocystic kidney disease with hyperuricemia and isosthenuria (GCKDHI), and familial juvenile hyperuricemic nephropathy (FJHN). Alternative splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013]. |
Disorder MIM: | |
Disorder Html: | Hyperuricemic nephropathy, familial juvenile 1, 162000 (3); Medullary cystic kidney disease 2, 603860 (3); Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886 (3) |