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GoPubMed Proteins lists recent and important papers and reviews for proteins. Page last changed on 08 Dec 2016.

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)
Papers on TMC1
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.
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
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.
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