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a novel TMC1 mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss, was found.
there is hypo-functional TMC1 mechanotransduction channel activity and other even less damaging variants of TMC1 may be associated with more common mild-to-severe sensorineural hearing loss.
TMC1 has been identified as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
The first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss.
The novel compound heterozygous mutant alleles of TMC1 identified in this study were responsible for the autosomal recessive non-syndromic hearing loss in this Tibetan Chinese family.
one heterozygous, non-synonymous variant was detected, with the SNP causing an amino acid substitution in TMC1 in a Polish family with hearing impairment
TMC1 mutations disrupt hair cell mechanoelectrical transduction and are responsible for DFNA36 and DFNB7/B11. [Review Article]
TMC1 is expressed in the hair cells in inner ear.
Description of the spectrum of mutations in TMC1 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
hearing loss in this family was caused by novel compound heterozygous mutations in TMC1
This study showed that calcium and integrin-binding protein 2 binds to the components of the hair cell mechanotransduction complex, TMC1 and TMC2, and these interactions are disrupted by deafness-causing Cib2 mutations.
TMC1 and TMC2 are components of the stereocilia mechanoelectrical transduction channel complex.
The results suggest that a major component of channel adaptation is regulated by changes in intracellular Ca(2 (show CA2 Proteins)+).
This study demonstrated that the M412K point mutation in TMC1 of Beethoven mice leads to a reduced Ca2 (show CA2 Proteins)+ permeability, more so in Tmc1Bth/Bth than in Tmc1Bh/+, and conductance of the MET channel of Mouse Outer Hair Cells.
gene augmentation with Tmc1 or Tmc2 is well suited for further development as a strategy for restoration of auditory function in deaf patients who carry TMC1 mutations
During the first postnatal week, we observed a normal mechanotransducer current in hair cells lacking Tmc1 or Tmc2; however, in the absence of both isoforms, we recorded a large MT current that was phase-shifted 180 degrees .
This study demonstrate TMC1 is components of hair cell transduction channels and contribute to permeation properties.
Tmc1 is expressed in mouse vestibular & cochlear hair cells near the stereocilia tips. Deletion of Tmc1 & Tmc2 causes deafness. Restoration of Tmc1 rescues mechanotransduction.
Tmc1 was present within the endoplasmic reticulum as an integral membrane protein containing six transmembrane domains and cytosolic N- and C-termini.
This gene is considered a member of a gene family predicted to encode transmembrane proteins. The specific function of this gene is unknown\; however, it is known to be required for normal function of cochlear hair cells. Mutations in this gene have been associated with progressive postlingual hearing loss and profound prelingual deafness.
transmembrane channel-like protein 1
, transmembrane channel-like 1
, transmembrane channel-like protein 1-like
, transmembrane cochlear-expressed protein 1
, transmembrane, cochlear expressed, 1
, transmembrane channel-like gene family 1
, deafness protein
, transmembrane, cochlear expressed 1