Transmembrane protease, serine 3 is an
enzyme that in humans is encoded by the ''TMPRSS3''
gene.
Function
This gene encodes a member of 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
Cysteine (symbol Cys or C; ) is a semiessential proteinogenic amino acid with the formula . The thiol side chain in cysteine often participates in enzymatic reactions as a nucleophile.
When present as a deprotonated catalytic residue, sometime ...
-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
In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the effect of a different variant of the same gene on the other copy of the chromosome. The first variant is termed dominant and t ...
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
The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the ...
or the contents of the
perilymph and
endolymph. This gene was also identified as a
tumor associated gene that is overexpressed in ovarian tumors. Four
alternatively spliced variants have been described, two of which encode identical products.
References
Further reading
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