| UMOD |
| LOCUS ID | 7369 | ||||
| GENE_SYMBOL | UMOD | ||||
| GENE NAME | uromodulin | ||||
| SYNONYMNS | THP, FJHN, HNFJ, THGP, HNFJ1, MCKD2, ADMCKD2 | ||||
| CHROMOSOME | 16 | ||||
| HOMOLOGENE ID | 2522 | ||||
| SOURCE | HUMAN |
| PMIDs | 21738052 |
| GENE SUMMARY |
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| 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 lumil 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 uriry 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). Altertive splicing of this gene results in multiple transcript variants. [provided by RefSeq, Jul 2013] |
| OBSERVATION |
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| 1. The present study highlights that the common variant of the UMOD gene is protective against diabetic nephropathy susceptibility and also affects kidney function and blood pressure in patients with type 2 diabetes. However, the association with diabetic nephropathy was independent of blood pressure and kidney function. |