TMPRSS3 Antibody – Goat Polyclonal

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]

TMPRSS3: 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. Activates ENaC (in vitro). Defects in TMPRSS3 are the cause of deafness autosomal recessive type 8 (DFNB8). DFNA8 is a form of 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. Defects in TMPRSS3 are the cause of deafness autosomal recessive type 10 (DFNB10). Belongs to the peptidase S1 family. 5 isoforms of the human protein are produced by alternative splicing.

Protein type: Endoplasmic reticulum; Membrane protein, integral; Protease; EC 3.4.21.-

Chromosomal Location of Human Ortholog: 21q22.3

Cellular Component: cell soma; endoplasmic reticulum; endoplasmic reticulum membrane; integral to membrane

Molecular Function: scavenger receptor activity; serine-type endopeptidase activity; sodium channel regulator activity

Biological Process: cellular sodium ion homeostasis; proteolysis; receptor-mediated endocytosis; sensory perception of sound

Disease: Deafness, Autosomal Recessive 8