TMPRSS3 ist ein Gen, das durch das Symbol TMPRSS3 kodiert wird. Es ist auch bekannt als: Transmembrane protease serine 3; Serine protease TADG-12; Tumor-associated differentially-expressed gene 12 protein; ECHOS1; TADG12. TMPRSS3 hat eine Masse von 49.41kDa, eine Aminosäurelänge von 454, und ist an Deafness, autosomal recessive, 8 beteiligt.
Wir bieten 6 antikörper gegen TMPRSS3, aufgewachsen in Kaninchen und Ziege, welche geeignet sind für WB, IHC, ELISA and ICC/IF mit Proben abgeleitet von Human, Maus und Ratte.
Gen- und Proteininformationen
UniProt Zusammenfassung
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).
Entrez Zusammenfassung
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.
Gewebespezifität
Expressed in many tissues including fetal cochlea. Isoform T is found at increased levels in some carcinomas.
Rolle bei Krankheiten
Deafness, autosomal recessive, 8: 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.
Sequenzähnlichkeiten
Belongs to the peptidase S1 family.
Posttranslationale Modifikation
Undergoes autoproteolytic activation.
Zellort
Endoplasmic reticulum membrane.
