Gene: TMC1

Alternate names for this Gene: DFNA36|DFNB11|DFNB7

Gene Summary: 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.

Gene is located in Chromosome: 9

Location in Chromosome : 9q21.13

Description of this Gene: transmembrane channel like 1

Type of Gene: protein-coding

rs121908072 in TMC1 gene and Deafness, Autosomal Dominant 36 PMID 11850618 2002 Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

PMID 25388789 2014 Targeted genomic capture and massively parallel sequencing to identify novel variants causing Chinese hereditary hearing loss.

PMID 17250663 2007 The slower progression of hearing loss associated with p.D572H, in comparison with that caused by p.D572N, may reflect a correlation of DFNA36 phenotype with TMC1 genotype.

PMID 19180119 2009 Amino acid 572 in TMC1: hot spot or critical functional residue for dominant mutations causing hearing impairment.

rs121908074 in TMC1 gene and Deafness, Autosomal Recessive 7 PMID 11850618 2002 Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function.

PMID 21252500 2011 Progressive sensorineural hearing loss and normal vestibular function in a Dutch DFNB7/11 family with a novel mutation in TMC1.

PMID 23208854 2013 A sensitive and specific diagnostic test for hearing loss using a microdroplet PCR-based approach and next generation sequencing.

rs1000668 in TMC1 gene and Esophageal Neoplasms PMID 22960999 2012 Genome-wide association analyses of esophageal squamous cell carcinoma in Chinese identify multiple susceptibility loci and gene-environment interactions.