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Reviewed November 2006
What is the official name of the TMPRSS3 gene?
The official name of this gene is “transmembrane protease, serine 3.”
TMPRSS3 is the gene's official symbol. The TMPRSS3 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 TMPRSS3 gene?
The TMPRSS3 gene provides instructions for making a protein that is part of a large protein family called serine proteases. Serine proteases are enzymes that are involved in many normal biological functions, including digestion, blood clotting, and inflammation. These enzymes have an active center that cuts apart (cleaves) other proteins into smaller pieces. They are called serine proteases because the active center contains a molecule called serine. Serine is a type of amino acid, which is a building block found in many proteins.
The exact function of the protein made by the TMPRSS3 gene is unknown, but it appears to be essential for normal hearing. The protein likely plays a role in the development and maintenance of the inner ear, and is also present in many other tissues. Researchers believe that the TMPRSS3 protein activates a protein called the epithelial amiloride sensitive sodium channel (ENaC), which probably controls important chemical signaling pathways in the inner ear.
Does the TMPRSS3 gene share characteristics with other genes?
The TMPRSS3 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 TMPRSS3 gene related to health conditions?
Where is the TMPRSS3 gene located?
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 43,791,995 to 43,816,954
The TMPRSS3 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the TMPRSS3 gene is located from base pair 43,791,995 to base pair 43,816,954 on chromosome 21.
See How do geneticists indicate the location of a gene? in the Handbook.
Where can I find additional information about TMPRSS3?
You and your healthcare professional may find the following resources about TMPRSS3 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 TMPRSS3 gene or gene products?
See How are genetic conditions and genes named? in the Handbook.
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 TMPRSS3?
acids ; amino acid ; autosomal ; autosomal recessive ; blood clotting ; cancer ; channel ; clotting ; digestion ; DNA ; epithelial ; expressed ; gene ; inflammation ; insertion ; metastasis ; molecule ; ovarian ; pancreatic ; population ; protease ; protein ; recessive ; serine ; sodium ; sodium channel ; transmembrane ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
See also Understanding Medical Terminology.
References (10 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.