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Gene : UMOD Homo sapiens

Name  ? uromodulin Cytological Location  16p12.3
Brief Description  uromodulin
Description  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]
  • synonyms:
  • HNFJ,
  • Tamm-Horsfall glycoprotein,
  • uc059rpt.1,
  • THGP,
  • OTTHUMG00000131488,
  • MCKD2,
  • uromucoid,
  • THP,
  • HNFJ1,
  • M17778,
  • NM_001008389,
  • uromodulin (uromucoid, Tamm-Horsfall glycoprotein),
  • ADMCKD2,
  • FJHN,
  • UMOD,
  • HGNC:12559
  • identifiers:
  • 7369,
  • ENSG00000169344,
  • UMOD

Genome feature

Region: gene ? Length: 23251  
Location: 16:20333051-20356301 reverse strand Cyto location: 16p12.3


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Disease

3 Diseases

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Expression

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7 SN Ps

5 Cross References

19 Data Sets

7 Homologues

0 Located Features

97 Rna Seq Results