background:
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]
Function:
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 (By similarity). Activates ENaC (in vitro).
Subcellular Location:
Endoplasmic reticulum membrane.
Tissue Specificity:
Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
Post-translational modifications:
Undergoes autoproteolytic activation.
DISEASE:
Defects in TMPRSS3 are the cause of deafness autosomal recessive type 8 (DFNB8) [MIM:601072]. 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) [MIM:605316].
Similarity:
Belongs to the peptidase S1 family.
Contains 1 LDL-receptor class A domain.
Contains 1 peptidase S1 domain.
Contains 1 SRCR domain.
Database links:
Entrez Gene: 64699 Human
Entrez Gene: 140765 Mouse
Omim: 605511 Human
SwissProt: P57727 Human
SwissProt: Q8K1T0 Mouse
Unigene: 208600 Human
Unigene: 214638 Mouse
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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