Gene: TMPRSS3

Alternate names for this Gene: DFNB10|DFNB8|ECHOS1|TADG12

Gene Summary: 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.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: transmembrane serine protease 3

Type of Gene: protein-coding

rs137852999 in TMPRSS3 gene and DEAFNESS, CHILDHOOD-ONSET NEUROSENSORY, AUTOSOMAL RECESSIVE 8 PMID 12393794 2002 The transmembrane serine protease (TMPRSS3) mutated in deafness DFNB8/10 activates the epithelial sodium channel (ENaC) in vitro.

PMID 11462234 2001 Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness.

PMID 15447792 2004 Characterization of a new full length TMPRSS3 isoform and identification of mutant alleles responsible for nonsyndromic recessive deafness in Newfoundland and Pakistan.

PMID 11424922 2001 Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness.

PMID 16021470 2005 A novel TMPRSS3 missense mutation in a DFNB8/10 family prevents proteolytic activation of the protein.

PMID 11907649 2002 Mutations in the TMPRSS3 gene are a rare cause of childhood nonsyndromic deafness in Caucasian patients.

PMID 22975204 2012 Prediction of cochlear implant performance by genetic mutation: the spiral ganglion hypothesis.

PMID 16283880 2005 Assessment of the genetic causes of recessive childhood non-syndromic deafness in the UK - implications for genetic testing.

PMID 21786053 2011 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.

PMID 17551081 2007 Autosomal recessive postlingual hearing loss (DFNB8): compound heterozygosity for two novel TMPRSS3 mutations in German siblings.

PMID 24526180 2014 A novel mutation of TMPRSS3 related to milder auditory phenotype in Korean postlingual deafness: a possible future implication for a personalized auditory rehabilitation.

PMID 23958653 2013 Genetic analysis of TMPRSS3 gene in the Korean population with autosomal recessive nonsyndromic hearing loss.

PMID 28246597 2017 Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment.

PMID 21534946 2012 Novel TMPRSS3 variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.

PMID 26036852 2016 TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

PMID 19170735 2009 Coexistence of Unverricht-Lundborg disease and congenital deafness: molecular resolution of a complex comorbidity.

rs727503493 in TMPRSS3 gene and Movement Disorders PMID 12920079 2003 Pathogenic mutations but not polymorphisms in congenital and childhood onset autosomal recessive deafness disrupt the proteolytic activity of TMPRSS3.

PMID 26036852 2016 TMPRSS3 mutations in autosomal recessive nonsyndromic hearing loss.

PMID 28263784 2017 Putative TMPRSS3/GJB2 digenic inheritance of hearing loss detected by targeted resequencing.

PMID 17981648 2008 TMPRSS3, a type II transmembrane serine protease mutated in non-syndromic autosomal recessive deafness.

PMID 26408194 2016 Pathogenic p.Cys194Metfs*17 variant argues against TMPRSS3/GJB2 digenic inheritance of hearing loss.

PMID 21786053 2011 Genotype-phenotype correlation in DFNB8/10 families with TMPRSS3 mutations.