TMPRSS3

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.

nonsyndromic deafness - caused by mutations in the TMPRSS3 gene

More than 10 mutations in the TMPRSS3 gene have been reported in people with a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB8/10. Studies suggest that mutations in this gene may be a significant cause of nonsyndromic deafness in the Turkish population.

Most mutations in the TMPRSS3 gene lead to changes in single amino acids in critical regions of the TMPRSS3 protein. An insertion of a large amount of extra DNA in the TMPRSS3 gene is responsible for nonsyndromic deafness in one Pakistani family. Mutations in this gene probably impair the function of the TMPRSS3 protein. The altered protein cannot interact normally with other proteins (such as ENaC) or play its role in the development of structures in the inner ear.

cancers - associated with the TMPRSS3 gene

Researchers have discovered that the TMPRSS3 gene may be associated with some types of cancer. The TMPRSS3 protein is produced at high levels (overexpressed) in some pancreatic and ovarian cancer cells. Scientists do not know what causes this abnormal expression and have not determined whether the TMPRSS3 protein plays a role in the development of cancer. They suspect that it may be involved in the spread (metastasis) of tumors and could activate hormones or other growth factors in certain cancer cells.