Uromodulin

Alternative Names

  • UMOD
  • Tamm-Horsfall Glycoprotein
  • THP
  • THGP
Back to search Result
OMIM Number

191845

NCBI Gene ID

7369

Uniprot ID

P07911

Length

23,251 bases

No. of Exons

15

No. of isoforms

5

Protein Name

Uromodulin

Molecular Mass

69761 Da

Amino Acid Count

640

Genomic Location

chr16:20,333,051-20,356,301

Gene Map Locus
16p12.3

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. [From RefSeq]

Epidemiology in the Arab World

View Map
Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_003361.4:c.306delSaudi ArabiaNC_000016.10:g.20348997delUncertain SignificanceLikely PathogenicTubulointerstitial Kidney Disease, Autosomal Dominant, 1 NG_008151.1:g.8721del; NM_003361.4:c.306del; NP_003352.2:p.Gly103ValfsTer1413065150
© CAGS 2024. All rights reserved.