TMC1
Domain
TMC1 is structurally similar to TMEM16 channel and may include ten transmembrane (TM) domains with the ion-conducting pore placed between TM4 and TM7.
Function
Pore-forming subunit of the mechanotransducer (MET) non-selective cation channel complex located at the tips of stereocilia of cochlear hair cells and that mediates sensory transduction in the auditory system (By similarity). The MET complex is composed of two dimeric pore-forming ion-conducting transmembrane TMC (TMC1 or TMC2) subunits, and aided by several auxiliary proteins including LHFPL5, TMIE, CIB2/3 and TOMT, and the tip-link PCDH15 (By similarity). MET channel is activated by tension in the tip-link extending from the side wall of one stereocilium to the tip of the adjacent shorter stereocilium, where the channel is located (By similarity). TMC1 MET channel is highly permeable to calcium and likely transports monovalent cations (By similarity). Also involved in vestibular hair cells transduction current (By similarity).
Involvement in disease
Deafness, autosomal dominant, 36
DFNA36
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. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years.
None
The disease is caused by variants affecting the gene represented in this entry.
Deafness, autosomal recessive, 7
DFNB7
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.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the TMC family.
Tissue Specificity
Detected in fetal cochlea, and at low levels in placenta and testis.
Cellular localization
- Cell membrane
- Multi-pass membrane protein
- Localized to the stereocilia tips of the cochlear hair cells.
Alternative names
Transmembrane channel-like protein 1, Transmembrane cochlear-expressed protein 1, TMC1