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Transmembrane channel-like 1

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. [provided by RefSeq, Jul 2008] (from NCBI)
Top mentioned proteins: Cx26, HAIR, TMC2, HAD, TMC
Papers on TMC1
Tmc1 Point Mutation Affects Ca2+ Sensitivity and Block by Dihydrostreptomycin of the Mechanoelectrical Transducer Current of Mouse Outer Hair Cells.
Marcotti et al., Sheffield, United Kingdom. In J Neurosci, Feb 2016
Using a mutant mouse model (Beethoven) for progressive hearing loss in humans (DFNA36), which harbors a point mutation in the Tmc1 gene, we show that this mutation affects the MET channel pore, reducing its Ca(2+) permeability and its affinity for the permeant blocker dihydrostreptomycin.
A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
Barakat et al., Casablanca, Morocco. In Gene, Jan 2016
After filtering data and Sanger sequencing validation, one novel pathogenic homozygous mutation c.1810C>G (p.Arg604Gly) was identified in TMC1, a gene reported to cause deafness in various populations.
Comparative transcriptome analysis reveals that the extracellular matrix receptor interaction contributes to the venous metastases of hepatocellular carcinoma.
Liu et al., Shanghai, China. In Cancer Genet, Oct 2015
We also identified five common fusion genes between HCC and its corresponding PVTT samples, including ARID1A-GPATCH3, MDM1-NUP107, PTGES3-RARG, PRLR-TERT, and C9orf3-TMC1.
In the Right Place at the Right Time: Is TMC1/2 the Transduction Channel for Hearing?
Corey et al., Boston, United States. In Cell Rep, Oct 2015
Recent papers suggest that TMC1 and TMC2 constitute the ion channels mediating hearing and balance.
TMC1 and TMC2 Localize at the Site of Mechanotransduction in Mammalian Inner Ear Hair Cell Stereocilia.
Kachar et al., Bethesda, United States. In Cell Rep, Oct 2015
Transmembrane channel-like 1 and 2 (TMC1 and TMC2) are essential for MET and are hypothesized to be components of the MET complex, but evidence for their predicted spatiotemporal localization in stereocilia is lacking.
The effects of Tmc1 Beethoven mutation on mechanotransducer channel function in cochlear hair cells.
Fettiplace et al., Madison, United States. In J Gen Physiol, Sep 2015
The molecular composition of the MT channel is still not fully established, although transmembrane channel-like protein isoform 1 (TMC1) may be one component.
Transmembrane channel-like (TMC) genes are required for auditory and vestibular mechanosensation.
Holt et al., Tokyo, Japan. In Pflugers Arch, 2015
Mutations of the transmembrane channel-like 1 (TMC1) gene can cause dominant and recessive forms of deafness in humans and mice.
Comprehensive Analysis of Deafness Genes in Families with Autosomal Recessive Nonsyndromic Hearing Loss.
Ozkinay et al., İzmir, Turkey. In Plos One, 2014
Remaining 14 families had 15 different variants in other known NSHL genes (MYO7A, MYO15A, MARVELD2, TMIE, DFNB31, LOXHD1, GPSM2, TMC1, USH1G, CDH23).
TMC function in hair cell transduction.
Asai et al., Boston, United States. In Hear Res, 2014
A growing body of evidence supports a direct role for TMC1 and TMC2 as components of the transduction complex.
tmc-1 encodes a sodium-sensitive channel required for salt chemosensation in C. elegans.
Schafer et al., Cambridge, United Kingdom. In Nature, 2013
Human TMC1 and TMC2 genes are linked to human deafness and required for hair-cell mechanotransduction; however, the molecular functions of these and other TMC proteins have not been determined.
The common TMC1 mutation c.100C>T (p.Arg34X) is not a significant cause of deafness in British Asians.
Charlton et al., Leeds, United Kingdom. In Genet Test Mol Biomarkers, 2012
A single founder mutation, c.100C>T (p.Arg34X) that dominates the TMC1 mutation spectrum is not a significant cause of deafness in British Aasians.
Autosomal recessive nonsyndromic deafness genes: a review.
Tekin et al., Ankara, Turkey. In Front Biosci, 2011
Other relatively common deafness genes include SLC26A4, MYO15A, OTOF, TMC1, CDH23, and TMPRSS3.
Mutations in TMC1 are a common cause of DFNB7/11 hearing loss in the Iranian population.
Najmabadi et al., Iowa City, United States. In Ann Otol Rhinol Laryngol, 2010
DFNB7/11 is a common form of genetic hearing loss in Iran, because this population is the source of 6 of the 29 TMC1 mutations reported worldwide
Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.
Cremers et al., Nijmegen, Netherlands. In Audiol Neurootol, 2010
A novel homozygous A-to-G change in the TMC1 gene was detected near the splice donor site of intron 19 (c.1763+3A-->G) segregating with the hearing loss in a Dutch family
Genetic causes of nonsyndromic hearing loss in Iran in comparison with other populations.
Zeinali et al., Tehrān, Iran. In J Hum Genet, 2010
Up to now, 10 genes, namely, GJB2, GJB6, SLC26A4, TECTA, PJVK, Col11A2, Myo15A, TMC1, RDX and microRNA (miR-183), have been studied in an Iranian population.
High frequency of the p.R34X mutation in the TMC1 gene associated with nonsyndromic hearing loss is due to founder effects.
Masmoudi et al., Sfax, Tunisia. In Genet Test Mol Biomarkers, 2010
Our study shows that the p.R34X mutation in TMC1 in North African and Asian individuals arose from at least two different founders.
A novel mutation adjacent to the Bth mouse mutation in the TMC1 gene makes this mouse an excellent model of human deafness at the DFNA36 locus.
Smith et al., In Clin Genet, 2010
A novel dominant mutation, p.G417R, and a novel recessive mutation, p.N50KfsX26, in TMC1 in a large Iranian DFNA36 family (Family L1754 ) and a consanguineous Iranian DFNB7/11 family (Family L787), respectively, were identified.
Forty-six genes causing nonsyndromic hearing impairment: which ones should be analyzed in DNA diagnostics?
Van Camp et al., Antwerp, Belgium. In Mutat Res, 2009
The most frequent genes implicated in autosomal recessive nonsyndromic hearing loss are GJB2, which is responsible for more than half of cases, followed by SLC26A4, MYO15A, OTOF, CDH23 and TMC1.
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.
Griffith et al., Rockville, United States. In Nat Genet, 2002
role of mutations causing dominant and recessive deafness
Beethoven, a mouse model for dominant, progressive hearing loss DFNA36.
Steel et al., Tel Aviv-Yafo, Israel. In Nat Genet, 2002
Progressive hearing loss (DFNA36) and profound congenital deafness (DFNB7/B11) are caused by dominant and recessive mutations of the human ortholog, TMC1 (ref.
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