TMPRSS3

This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, a 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]

Full Name

transmembrane protease, serine 3

Function

Probable serine protease that plays a role in hearing. Acts as a permissive factor for cochlear hair cell survival and activation at the onset of hearing and is required for saccular hair cell survival (By similarity).
Activates ENaC (in vitro).

Biological Process

Biological Process cellular sodium ion homeostasisSource:MGI1 Publication
Biological Process proteolysisSource:UniProtKB1 Publication
Biological Process sensory perception of soundSource:Ensembl

Cellular Location

Endoplasmic reticulum membrane

Involvement in disease

Deafness, autosomal recessive, 8 (DFNB8):
A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information.

Topology

Cytoplasmic: 1-48
Helical: 49-69
Extracellular: 70-454

PTM

Undergoes autoproteolytic activation.