TMPRSS3
Description
The TMPRSS3 (transmembrane serine protease 3) is a protein-coding gene located on chromosome 21.
TMPRSS3 is a member of the serine protease family and is encoded by the TMPRSS3 gene in humans. It contains a serine protease domain, a transmembrane domain, an LDL receptor class A domain, and a scavenger receptor cysteine-rich domain. Serine proteases are involved in various biological processes, and malfunction can lead to human diseases. TMPRSS3 is associated with both congenital and childhood onset autosomal recessive deafness. It is expressed in the fetal cochlea and many other tissues and is believed to be involved in the development and maintenance of the inner ear or the contents of the perilymph and endolymph. TMPRSS3 is also a tumor-associated gene that is overexpressed in ovarian tumors. Four alternatively spliced variants have been described, two of which encode identical products.
TMPRSS3 is also known as DFNB10, DFNB8, ECHOS1, TADG12.
