Property Summary

NCBI Gene PubMed Count 33
Grant Count 31
R01 Count 19
Funding $4,670,942.82
PubMed Score 109.48
PubTator Score 114.55

Knowledge Summary

Patent (1,430)

Expression

  Differential Expression (1)

Disease log2 FC p
psoriasis 1.600 0.000

Gene RIF (27)

PMID Text
26879195 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.
26822030 a novel TMC1 mutation in exon 20, c.1979C>T, p.P660L, which segregated with prelingual autosomal recessive sensorineural hearing loss, was found.
26226225 The first mutation in the TMC1 gene in the Moroccan population causing non-syndromic hearing loss.
26079994 TMC1 has been identified as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
25560804 one heterozygous, non-synonymous variant was detected, with the SNP causing an amino acid substitution in TMC1 in a Polish family with hearing impairment
25458163 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.
25423259 Co-segregation of c.2030T>C mutation with hearing loss in an Iranian family and absence of this mutation in 100 Iranian controls confirms the pathogenicity of this mutation.
24933710 TMC1 mutations disrupt hair cell mechanoelectrical transduction and are responsible for DFNA36 and DFNB7/B11. [Review Article]
24827932 TMC1 is expressed in the hair cells in inner ear.
24416283 Description of the spectrum of mutations in TMC1 in 374 families with autosomal recessive, non-syndromic hearing loss from India.
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AA Sequence

MSPKKVQIKVEEKEDETEESSSEEEEEVEDKLPRRESLRPKRKRTRDVINEDDPEPEPEDEETRKAREKE      1 - 70
RRRRLKRGAEEEEIDEEELERLKAELDEKRQIIATVKCKPWKMEKKIEVLKEAKKFVSENEGALGKGKGK     71 - 140
RWFAFKMMMAKKWAKFLRDFENFKAACVPWENKIKAIESQFGSSVASYFLFLRWMYGVNMVLFILTFSLI    141 - 210
MLPEYLWGLPYGSLPRKTVPRAEEASAANFGVLYDFNGLAQYSVLFYGYYDNKRTIGWMNFRLPLSYFLV    211 - 280
GIMCIGYSFLVVLKAMTKNIGDDGGGDDNTFNFSWKVFTSWDYLIGNPETADNKFNSITMNFKEAITEEK    281 - 350
AAQVEENVHLIRFLRFLANFFVFLTLGGSGYLIFWAVKRSQEFAQQDPDTLGWWEKNEMNMVMSLLGMFC    351 - 420
PTLFDLFAELEDYHPLIALKWLLGRIFALLLGNLYVFILALMDEINNKIEEEKLVKANITLWEANMIKAY    421 - 490
NASFSENSTGPPFFVHPADVPRGPCWETMVGQEFVRLTVSDVLTTYVTILIGDFLRACFVRFCNYCWCWD    491 - 560
LEYGYPSYTEFDISGNVLALIFNQGMIWMGSFFAPSLPGINILRLHTSMYFQCWAVMCCNVPEARVFKAS    561 - 630
RSNNFYLGMLLLILFLSTMPVLYMIVSLPPSFDCGPFSGKNRMFEVIGETLEHDFPSWMAKILRQLSNPG    631 - 700
LVIAVILVMVLAIYYLNATAKGQKAANLDLKKKMKMQALENKMRNKKMAAARAAAAAGRQ              701 - 760
//

Text Mined References (33)

PMID Year Title
26879195 2016 Recessive mutations of TMC1 associated with moderate to severe hearing loss.
26822030 2016 Exome sequencing identifies a mutation in TMC1 as a novel cause of autosomal recessive nonsyndromic hearing loss.
26226225 2015 A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family.
26079994 2015 Targeted gene capture and massively parallel sequencing identify TMC1 as the causative gene in a six-generation Chinese family with autosomal dominant hearing loss.
25560804 2015 A TMC1 (transmembrane channel-like 1) mutation (p.S320R) in a Polish family with hearing impairment.
25458163 2014 Autosomal recessive non-syndromic hearing loss is caused by novel compound heterozygous mutations in TMC1 from a Tibetan Chinese family.
25423259 2015 Allelic heterogeneity among Iranian DFNB7/11 families: report of a new Iranian deaf family with TMC1 mutation identified by next-generation sequencing.
24933710 2014 Mutations of TMC1 cause deafness by disrupting mechanoelectrical transduction.
24827932 2014 A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth) mouse associated with autosomal dominant hearing loss in a Chinese family.
24416283 2014 Non-syndromic hearing impairment in India: high allelic heterogeneity among mutations in TMPRSS3, TMC1, USHIC, CDH23 and TMIE.
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