TMC1
Description
The TMC1 (transmembrane channel like 1) is a protein-coding gene located on chromosome 9.
Transmembrane channel-like protein 1 is a protein encoded by the TMC1 gene in humans. It contains six transmembrane domains, with both the C and N termini located on the endoplasmic side of the membrane. TMC1 also has a large loop between domains 4 and 5. This structure resembles that of transient receptor potential channels (TRPs), a protein family involved in sensory perception. TMC1 is found in the postnatal mouse cochlea, and knockouts for TMC1 and TMC2 result in both auditory and vestibular deficits (hearing loss and balance issues). This indicates that TMC1 is a crucial component of auditory transduction. TMC1 is part of a gene family predicted to encode transmembrane proteins. It was initially known only to be required for the normal function of cochlear hair cells. Recent research suggests that TMC1 interacts with tip-link proteins protocadherin 15 and cadherin 23, suggesting that TMC1, along with TMC2, is essential for hair cell mechanotransduction. Specifically, TMC1 and TMC2 may act as two pore-forming subunits of the channel responding to tip-link deflection in hair cells. Due to its role in cochlear hair cell function and interaction with hair cell tip links, TMC1 is being mutated and manipulated to better understand the receptor while simultaneously developing a molecular model for deafness. While deafness can arise at any stage of auditory processing, DFNA36 (a type of progressive hearing loss) and DFNB7/B11 (congenital hearing loss) have been specifically linked to TMC1 mutations.
A probable ion channel essential for the proper functioning of cochlear hair cells.
TMC1 is also known as DFNA36, DFNB11, DFNB7.
