Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Uromodulin

The protein product of the uromodulin gene is better known as Tamm-Horsfall protein, the most abundant protein excreted by normal urine. Although caused by mutations, the pathogenetic mechanism behind hyperuricemic nephropathy, medullary and glomerular cystic kidney diseases has yet to be elucidated.

Gene Structure

The gene consists of 12 exons, of which 11 are translated.

Genetests:

Clinic Method Carrier testing
Turnaround 5 days
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25 days
Specimen type genomic DNA
Clinic Method Genomic sequencing of the entire coding region
Turnaround 5 days
Specimen type genomic DNA

Related Diseases:

Medullary cystic kidney disease 2
UMOD
Hyperuricemic nephropathy, familial juvenile 1
UMOD
Glomerulocystic kidney disease with hyperuricemia and isosthenuria
HNF1B
UMOD
Autosomal dominant tubulointerstitial kidney disease (ADTKD)
HNF1B
MUC1
REN
SEC61A1
UMOD

References:

1.

Stibůrková B et al. (2003) Familial juvenile hyperuricaemic nephropathy (FJHN): linkage analysis in 15 families, physical and transcriptional characterisation of the FJHN critical region on chromosome 16p11.2 and the analysis of seven candidate genes.

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2.

McBride MB et al. (1998) Presymptomatic detection of familial juvenile hyperuricaemic nephropathy in children.

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3.

Stibůrková B et al. (2000) Familial juvenile hyperuricemic nephropathy: localization of the gene on chromosome 16p11.2-and evidence for genetic heterogeneity.

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4.

Hart TC et al. (2002) Mutations of the UMOD gene are responsible for medullary cystic kidney disease 2 and familial juvenile hyperuricaemic nephropathy.

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5.

Turner JJ et al. (2003) UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.

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6.

Rampoldi L et al. (2003) Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics.

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7.

Vylet'al P et al. (2006) Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome.

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8.

TAMM I et al. (1952) A mucoprotein derived from human urine which reacts with influenza, mumps, and Newcastle disease viruses.

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9.

Yang H et al. (2004) Identification and characterization of D8C, a novel domain present in liver-specific LZP, uromodulin and glycoprotein 2, mutated in familial juvenile hyperuricaemic nephropathy.

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10.

Bisceglia M et al. (2006) Renal cystic diseases: a review.

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11.

Muchmore AV et al. (1985) Uromodulin: a unique 85-kilodalton immunosuppressive glycoprotein isolated from urine of pregnant women.

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12.

Pennica D et al. (1987) Identification of human uromodulin as the Tamm-Horsfall urinary glycoprotein.

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13.

Pook MA et al. (1993) Localization of the Tamm-Horsfall glycoprotein (uromodulin) gene to chromosome 16p12.3-16p13.11.

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14.

Jeanpierre C et al. (1993) Chromosomal assignment of the uromodulin gene (UMOD) to 16p13.11.

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15.

Fukuoka S et al. (1997) Assignment of the Tamm-Horsfall protein/uromodulin gene (Umod) to mouse chromosome bands 7F1-F2 and rat chromosome bands 1q36-->q37 by in situ hybridization.

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16.

Orphanet article

Orphanet ID 120412 [^]
17.

NCBI article

NCBI 7369 [^]
18.

OMIM.ORG article

Omim 191845 [^]
19.

Wikipedia article

Wikipedia EN (Tamm–Horsfall_protein) [^]
Update: April 29, 2019