Aliases for TMPRSS3 Gene
External Ids for TMPRSS3 Gene
Previous HGNC Symbols for TMPRSS3 Gene
Previous GeneCards Identifiers for TMPRSS3 Gene
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]
GeneCards Summary for TMPRSS3 Gene
TMPRSS3 is a Protein Coding gene. Diseases associated with TMPRSS3 include deafness, autosomal recessive 8/10 and dfnb 8/10 nonsyndromic hearing loss and deafness. GO annotations related to this gene include serine-type endopeptidase activity and sodium channel regulator activity. An important paralog of this gene is HPN.
UniProtKB/Swiss-Prot for TMPRSS3 Gene
Probable serine protease that play a role in hearing. Acts as a permissive factor for cochlear hair cells survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity). Activates ENaC (in vitro).