Reviewed December 2009
What is the official name of the UMOD gene?
The official name of this gene is “uromodulin.”
UMOD is the gene's official symbol. The UMOD gene is also known by other names, listed below.
What is the normal function of the UMOD gene?
The UMOD gene provides instructions for making a protein called uromodulin. This protein is produced by the kidneys and then excreted from the body in urine. The function of uromodulin remains unclear, although it is known to be the most abundant protein in the urine of healthy individuals. Researchers have suggested that uromodulin may protect against urinary tract infections. It may also help control the amount of water in urine.
How are changes in the UMOD gene related to health conditions?
- uromodulin-associated kidney disease - caused by mutations in the UMOD gene
More than 40 mutations in the UMOD gene have been found to cause uromodulin-associated kidney disease. Most of these mutations change single protein building blocks (amino acids) used to make uromodulin. These mutations alter the structure of the protein, preventing its release from kidney cells. Abnormal buildup of uromodulin may trigger the self-destruction (apoptosis) of cells in the kidneys, causing kidney disease.
Where is the UMOD gene located?
Cytogenetic Location: 16p12.3
Molecular Location on chromosome 16: base pairs 20,344,372 to 20,364,036
The UMOD gene is located on the short (p) arm of chromosome 16 at position 12.3.
More precisely, the UMOD gene is located from base pair 20,344,372 to base pair 20,364,036 on chromosome 16.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
Where can I find additional information about UMOD?
You and your healthcare professional may find the following resources about UMOD helpful.
- Gene Reviews - Clinical summary (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mckd2)
Genetic Testing Registry - Repository of genetic test information
- GTR: Genetic tests for UMOD (http://www.ncbi.nlm.nih.gov/gtr/tests/?term=7369%5Bgeneid%5D)
You may also be interested in these resources, which are designed for genetics professionals and researchers.
- PubMed - Recent literature (http://www.ncbi.nlm.nih.gov/pubmed?term=((UMOD%5BTIAB%5D)%20OR%20(uromodulin%5BTIAB%5D))%20AND%20((Genes%5BMH%5D)%20OR%20(Genetic%20Phenomena%5BMH%5D))%20AND%20english%5Bla%5D%20AND%20human%5Bmh%5D%20AND%20%22last%201800%20days%22%5Bdp%5D)
- OMIM - Genetic disorder catalog (http://omim.org/entry/191845)
Research Resources - Tools for researchers
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7369)
- GeneCards (http://www.genecards.org/cgi-bin/carddisp.pl?id_type=entrezgene&id=7369)
- HUGO Gene Nomenclature Committee (http://www.genenames.org/data/hgnc_data.php?hgnc_id=12559)
What other names do people use for the UMOD gene or gene products?
- Tamm-Horsfall protein
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
What glossary definitions help with understanding UMOD?
You may find definitions for these and many other terms in the Genetics Home Reference
- Bernascone I, Vavassori S, Di Pentima A, Santambrogio S, Lamorte G, Amoroso A, Scolari F, Ghiggeri GM, Casari G, Polishchuk R, Rampoldi L. Defective intracellular trafficking of uromodulin mutant isoforms. Traffic. 2006 Nov;7(11):1567-79. Epub 2006 Sep 30. (http://www.ncbi.nlm.nih.gov/pubmed/17010121?dopt=Abstract)
- Entrez Gene (http://www.ncbi.nlm.nih.gov/gene/7369)
- Gene Review: UMOD-Associated Kidney Disease (http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mckd2)
- 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 kidney disease 2 and familial juvenile hyperuricaemic nephropathy. J Med Genet. 2002 Dec;39(12):882-92. (http://www.ncbi.nlm.nih.gov/pubmed/12471200?dopt=Abstract)
- Lens XM, Banet JF, Outeda P, Barrio-Lucía V. A novel pattern of mutation in uromodulin disorders: autosomal dominant medullary cystic kidney disease type 2, familial juvenile hyperuricemic nephropathy, and autosomal dominant glomerulocystic kidney disease. Am J Kidney Dis. 2005 Jul;46(1):52-7. (http://www.ncbi.nlm.nih.gov/pubmed/15983957?dopt=Abstract)
- OMIM: UROMODULIN (http://omim.org/entry/191845)
- Rampoldi L, Caridi G, Santon D, Boaretto F, Bernascone I, Lamorte G, Tardanico R, Dagnino M, Colussi G, Scolari F, Ghiggeri GM, Amoroso A, Casari G. Allelism of MCKD, FJHN and GCKD caused by impairment of uromodulin export dynamics. Hum Mol Genet. 2003 Dec 15;12(24):3369-84. Epub 2003 Oct 21. (http://www.ncbi.nlm.nih.gov/pubmed/14570709?dopt=Abstract)
- Vylet'al P, Kublová M, Kalbácová M, Hodanová K, Baresová V, Stibůrková B, Sikora J, Hůlková H, Zivný J, Majewski J, Simmonds A, Fryns JP, Venkat-Raman G, Elleder M, Kmoch S. Alterations of uromodulin biology: a common denominator of the genetically heterogeneous FJHN/MCKD syndrome. Kidney Int. 2006 Sep;70(6):1155-69. Epub 2006 Aug 2. (http://www.ncbi.nlm.nih.gov/pubmed/16883323?dopt=Abstract)
- Williams SE, Reed AA, Galvanovskis J, Antignac C, Goodship T, Karet FE, Kotanko P, Lhotta K, Moriničre V, Williams P, Wong W, Rorsman P, Thakker RV. Uromodulin mutations causing familial juvenile hyperuricaemic nephropathy lead to protein maturation defects and retention in the endoplasmic reticulum. Hum Mol Genet. 2009 Aug 15;18(16):2963-74. doi: 10.1093/hmg/ddp235. Epub 2009 May 22. (http://www.ncbi.nlm.nih.gov/pubmed/19465746?dopt=Abstract)
The resources on this site should not be used as a substitute for
professional medical care or advice. Users seeking information about
a personal genetic disease, syndrome, or condition should consult with a qualified
See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.