| Name | uromodulin (uromucoid, Tamm-Horsfall glycoprotein) |
| Symbol | UMOD |
| Aliases | FJHN; HNFJ; MCKD2; ADMCKD2; uromucoid; Tamm-Horsfall glycoprotein |
| Gene Product | |
| Category | |
| UniGene |
Hs.130005
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| Reference Sequence |
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| OMIM and SNP |
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| Locus |
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| Summary | The Tamm-Horsfall glycoprotein (Tamm and Horsfall, 1952 [PubMed 14907962]), also referred to as uromodulin (Muchmore and Decker, 1985 [PubMed 2409603]), is a GPI-anchored glycoprotein and the most abundant protein in normal urine. Uromodulin, uropontin, and nephrocalcin are the 3 known urinary glycoproteins that affect the formation of calcium-containing kidney stones (MIM 167030).[supplied by OMIM] |
| Gene Ontology | |
| Expression | | EST (91 ESTs, 9 libraries) |
| Tissue | Breadth ? |
CPM ? |
| brain |  | | | kidney |  | | | muscle | | | | uncharacterized tissue | | |
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| Evidence | Mutation in Kidney Cystic Disease
- Hart TC, Gorry MC, Hart PS, Woodard AS, Shihabi Z, Sandhu J, Shirts B, Xu L, Zhu H, Barmada MM, Bleyer AJ Mutations of the UMOD gene are responsible for medullary cystic kidneydisease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet 2002 Dec;39(12):882-92.
Mutation in Nephrotic Syndrome
- Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Buchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y, Dahan K, Devuyst O, Smaers M, Vertommen D, Loute G, Poux JM, Viron B, Jacquot C, Gagnadoux MF, Chauveau D, Buchler M, Cochat P, Cosyns JP, Mougenot B, Rider MH, Antignac C, Verellen-Dumoulin C, Pirson Y A cluster of mutations in the UMOD gene causes familial juvenilehyperuricemic nephropathy with abnormal expression of uromodulin. J Am Soc Nephrol 2003 Nov;14(11):2883-93.
Other key publications related to this gene
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