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The official name of this gene is “transmembrane protease, serine 3.”
TMPRSS3 is the gene's official symbol. The TMPRSS3 gene is also known by other names, listed below.
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]
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).
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. The disease is caused by mutations affecting the gene represented in this entry.
|601072 (http://omim.org/entry/601072)||DEAFNESS, AUTOSOMAL RECESSIVE 8|
|605511 (http://omim.org/entry/605511)||TRANSMEMBRANE PROTEASE, SERINE 3|
Cytogenetic Location: 21q22.3
Molecular Location on chromosome 21: base pairs 42,371,887 to 42,396,846
The TMPRSS3 gene is located on the long (q) arm of chromosome 21 at position 22.3.
More precisely, the TMPRSS3 gene is located from base pair 42,371,887 to base pair 42,396,846 on chromosome 21.
See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
You and your healthcare professional may find the following resources about TMPRSS3 helpful.
You may also be interested in these resources, which are designed for genetics professionals and researchers.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
autosomal ; autosomal recessive ; cell ; cochlea ; congenital ; cysteine ; domain ; expressed ; gene ; in vitro ; LDL ; ovarian ; protease ; protein ; receptor ; recessive ; sensorineural ; sensorineural hearing loss ; serine ; transcript ; transmembrane ; tumor
You may find definitions for these and many other terms in the Genetics Home Reference Glossary.
The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.