transmembrane protease, serine 3

The information on this page was automatically extracted from online scientific databases.

From NCBI Gene:

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. [provided by RefSeq, Jan 2012]

From UniProt:

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).

Covered on Genetics Home Reference:

From UniProt:

Deafness, autosomal recessive, 8 (DFNB8): 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. [MIM:601072]

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3

Molecular Location: base pairs 42,371,887 to 42,396,846 on chromosome 21 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 21q22.3, which is the long (q) arm of chromosome 21 at position 22.3
  • DFNB8
  • DFNB10
  • ECHOS1
  • TADG12