This gene encodes a protein that belongs to the serine protease family. The encoded protein contains a serine protease domain, a transmembrane domain, a 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.
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Protein Aliases: DFNB10; DFNB8; ECHOS1; Serine protease TADG 12; Serine protease TADG-12; TADG12; TMPRSS3; Transmembrane protease serine 3; transmembrane proteinase serine 3; Tumor-associated differentially-expressed gene 12 protein
Gene Aliases: DFNB10; DFNB8; ECHOS1; TADG12; TMPRSS3; UNQ323/PRO382
Molecular Function: annexin calcium-binding protein calmodulin enzyme modulator hydrolase intracellular calcium-sensing protein peptide hormone protease protease inhibitor receptor serine protease signaling molecule