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anti-Human TMC1 Antibodies:
anti-Rat (Rattus) TMC1 Antibodies:
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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
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 Antibodies)+).
This study demonstrated that the M412K point mutation in TMC1 of Beethoven mice leads to a reduced Ca2 (show CA2 Antibodies)+ 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