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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.
仅用于科研。不用于诊断过程。未经明确授权不得转售。
蛋白别名: Serine protease TADG-12; Transmembrane protease serine 3; Tumor-associated differentially-expressed gene 12 protein
基因别名: DFNB10; DFNB8; ECHOS1; TADG12; TMPRSS3; UNQ323/PRO382
UniProt ID: (Human) P57727
Entrez Gene ID: (Human) 64699