Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

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.

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

external link
2.

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.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

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

external link
7.

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

external link
8.

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.

external link
9.

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

external link
10.

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

external link
11.

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

external link
12.

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

external link
13.

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

external link
14.

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

external link
15.

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.

external link
16.

Orphanet article

Orphanet ID 120412 external link
17.

NCBI article

NCBI 7369 external link
18.

OMIM.ORG article

Omim 191845 external link
19.

Wikipedia article

Wikipedia EN (Tamm–Horsfall_protein) external link
Update: Aug. 14, 2020
Copyright © 2005-2020 by Center for Nephrology and Metabolic Disorders, Dr. Mato Nagel, MD
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Germany, Tel.: +49-3576-287922, Fax: +49-3576-287944
Sitemap | Webmail | Disclaimer | Privacy Issues