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UMOD

UMOD

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.

Read more about gene names and symbols on the About page.

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 20,333,050 to 20,352,877

The UMOD gene is located on the short (p) arm of chromosome 16 at position 12.3.

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 20,333,050 to base pair 20,352,877 on chromosome 16.

See How do geneticists indicate the location of a gene? in the Handbook.

Where can I find additional information about UMOD?

You and your healthcare professional may find the following resources about UMOD helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the UMOD gene or gene products?

  • Tamm-Horsfall protein
  • UROM_HUMAN

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding UMOD?

acids ; apoptosis ; gene ; kidney ; protein

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

References (9 links)

 

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 healthcare professional. See How can I find a genetics professional in my area? in the Handbook.

 
Reviewed: December 2009
Published: July 21, 2014