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Reviewed July 2014

What is the official name of the TMPRSS6 gene?

The official name of this gene is “transmembrane protease, serine 6.”

TMPRSS6 is the gene's official symbol. The TMPRSS6 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 TMPRSS6 gene?

The TMPRSS6 gene provides instructions for making a protein called matriptase-2. This protein is part of a signaling pathway that controls the levels of another protein called hepcidin, which is a key regulator of iron balance in the body. When blood iron levels are low, this signaling pathway reduces hepcidin production, allowing more iron from the diet to be absorbed through the intestines and transported out of storage sites (particularly in the liver and spleen) into the bloodstream. Iron is an essential component of hemoglobin, which is the molecule in red blood cells that carries oxygen.

Does the TMPRSS6 gene share characteristics with other genes?

The TMPRSS6 gene belongs to a family of genes called PRSS (serine peptidases).

A gene family is a group of genes that share important characteristics. Classifying individual genes into families helps researchers describe how genes are related to each other. For more information, see What are gene families? in the Handbook.

How are changes in the TMPRSS6 gene related to health conditions?

iron-refractory iron deficiency anemia - caused by mutations in the TMPRSS6 gene

At least 40 mutations in the TMPRSS6 gene have been found to cause an inherited form of anemia called iron-refractory iron deficiency anemia. This condition is characterized by a shortage (deficiency) of iron in the bloodstream that is resistant (refractory) to treatment with iron.

TMPRSS6 gene mutations greatly reduce the amount of functional matriptase-2, preventing it from controlling hepcidin levels. The resulting elevation in hepcidin activity blocks the absorption of iron through the intestines and the release of iron from storage. When not enough iron is available in the bloodstream, less hemoglobin is produced and red blood cells cannot carry oxygen to the body's cells and tissues effectively. The shortage of oxygen causes the signs and symptoms of anemia, which can include tiredness (fatigue), weakness, and pale skin.

Where is the TMPRSS6 gene located?

Cytogenetic Location: 22q12.3

Molecular Location on chromosome 22: base pairs 37,065,436 to 37,110,635

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

The TMPRSS6 gene is located on the long (q) arm of chromosome 22 at position 12.3.

The TMPRSS6 gene is located on the long (q) arm of chromosome 22 at position 12.3.

More precisely, the TMPRSS6 gene is located from base pair 37,065,436 to base pair 37,110,635 on chromosome 22.

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

Where can I find additional information about TMPRSS6?

You and your healthcare professional may find the following resources about TMPRSS6 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 TMPRSS6 gene or gene products?

  • matriptase 2
  • matriptase-2
  • membrane-bound mosaic serine proteinase matriptase-2
  • transmembrane protease serine 6
  • type II transmembrane serine protease 6

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 TMPRSS6?

anemia ; deficiency ; gene ; hemoglobin ; inherited ; iron ; molecule ; mosaic ; oxygen ; protease ; protein ; proteinase ; serine ; transmembrane

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

See also Understanding Medical Terminology.

References (8 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: July 2014
Published: February 8, 2016