TMPRSS3

Also known as DFNB10, DFNB8, ECHOS1, TADG12, transmembrane protease, serine 3, transmembrane serine protease 3

Transmembrane protease, serine 3 is an enzyme that in humans is encoded by the TMPRSS3 gene.

In the Vinony graph

Within Vinony's link graph, TMPRSS3 is referenced by 5 other articles, and connects out to PubMed, human chromosome 21 and Ensembl genome database project.

It is catalogued under the topic Genes on human chromosome 21.

Its subject is documented across 5 Wikipedia language editions.

Gene data

TMPRSS3

Name: transmembrane serine protease 3
Type: protein-coding
Position: 42,371,840–42,396,122 (−)
Aliases: DFNB10, DFNB8, ECHOS1, TADG12
Ensembl: ENSG00000160183
RefSeq RNA: NM_001256317.3, NM_024022.4, NM_032401.1, NM_032404.3, NM_032405.2
RefSeq protein: NP_001243246.1, NP_076927.1, NP_115780.1, NP_115781.1

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, an LDL receptor-like domain, and a scavenger receptor cysteine-rich domain. Serine proteases are known to be involved in a variety of biological processes, whose malfunction often leads to human diseases and disorders. This gene was identified by its association with both congenital and childhood onset autosomal recessive deafness. This gene is expressed in fetal cochlea and many other tissues, and is thought to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. This gene was also identified as a tumor-associated gene that is overexpressed in ovarian tumors. Alternatively spliced transcript variants have been described. [provided by RefSeq, Jan 2012].