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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. Note: This description may include information from UniProtKB.
Protein type: EC 3.4.21.-; Endoplasmic reticulum; Membrane protein, integral; Protease
Chromosomal Location of Human Ortholog: 21q22.3
Cellular Component: endoplasmic reticulum; endoplasmic reticulum membrane
Molecular Function: sodium channel regulator activity
Biological Process: cellular sodium ion homeostasis
Disease: Deafness, Autosomal Recessive 8
Reference #:  P57727 (UniProtKB)
Alt. Names/Synonyms: DFNB10; DFNB8; ECHOS1; Serine protease TADG-12; serine protease TADG12; TADG12; TMPRSS3; TMPS3; Transmembrane protease serine 3; transmembrane protease, serine 3; Tumor-associated differentially-expressed gene 12 protein
Gene Symbols: TMPRSS3
Molecular weight: 49,405 Da
Basal Isoelectric point: 5.95  Predict pI for various phosphorylation states
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Protein Structure Not Found.

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