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Genetics Home Reference: your guide to understanding genetic conditions
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TMC1

Reviewed November 2006

What is the official name of the TMC1 gene?

The official name of this gene is “transmembrane channel-like 1.”

TMC1 is the gene's official symbol. The TMC1 gene is also known by other names, listed below.

What is the normal function of the TMC1 gene?

The TMC1 gene provides instructions for making a protein called transmembrane channel-like 1. This protein is found in the inner ear, but its function is not fully understood. Based on its location in the inner ear, the TMC1 protein probably plays a role in converting sound waves to nerve impulses, a critical process for normal hearing. Alternatively, the TMC1 protein may be involved in signalling processes that are important for the survival of cells in the inner ear.

How are changes in the TMC1 gene related to health conditions?

nonsyndromic deafness - caused by mutations in the TMC1 gene

Researchers have identified several TMC1 gene mutations that cause a form of nonsyndromic deafness (hearing loss without related signs and symptoms affecting other parts of the body) called DFNB7/B11. This form of deafness is inherited in an autosomal recessive manner, which means that two copies of the TMC1 gene in each cell are altered. Some TMC1 gene mutations create a premature stop signal in the instructions for making the TMC1 protein. As a result, researchers believe that no protein is produced or an abnormally small protein is made. Other mutations delete part of the TMC1 gene. A few mutations replace one of the building blocks (amino acids) used to make the TMC1 protein with an incorrect amino acid. This type of mutation may alter the 3-dimensional shape of the TMC1 protein. TMC1 gene mutations that cause autosomal recessive deafness probably affect the normal activity of the TMC1 protein and disrupt the conversion of sound waves to nerve impulses.

One TMC1 gene mutation has been reported in individuals with a form of nonsyndromic deafness called DFNA36, which is inherited in an autosomal dominant manner. This type of inheritance means that one copy of an altered TMC1 gene in each cell is sufficient to cause hearing loss. The mutation replaces the amino acid aspartic acid with the amino acid asparagine at protein position 572 (written as Asp572Asn or D572N). This mutation probably affects the normal activity of the TMC1 protein and disrupts the conversion of sound waves to nerve impulses.

Where is the TMC1 gene located?

Cytogenetic Location: 9q21.12

Molecular Location on chromosome 9: base pairs 72,521,800 to 72,836,350

The TMC1 gene is located on the long (q) arm of chromosome 9 at position 21.12.

The TMC1 gene is located on the long (q) arm of chromosome 9 at position 21.12.

More precisely, the TMC1 gene is located from base pair 72,521,800 to base pair 72,836,350 on chromosome 9.

See How do geneticists indicate the location of a gene? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.

Where can I find additional information about TMC1?

You and your healthcare professional may find the following resources about TMC1 helpful.

You may also be interested in these resources, which are designed for genetics professionals and researchers.

What other names do people use for the TMC1 gene or gene products?

  • DFNA36
  • DFNB7
  • DFNB11
  • TMC1_HUMAN
  • transmembrane, cochlear expressed, 1

See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.

What glossary definitions help with understanding TMC1?

acids ; amino acid ; asparagine ; aspartic acid ; autosomal ; autosomal dominant ; autosomal recessive ; cell ; channel ; expressed ; gene ; inheritance ; inherited ; mutation ; protein ; recessive ; transmembrane

You may find definitions for these and many other terms in the Genetics Home Reference Glossary (http://www.ghr.nlm.nih.gov/glossary).

References

  • Finsterer J, Fellinger J. Nuclear and mitochondrial genes mutated in nonsyndromic impaired hearing. Int J Pediatr Otorhinolaryngol. 2005 May;69(5):621-47. Review. (http://www.ncbi.nlm.nih.gov/pubmed/15850684?dopt=Abstract)
  • Kalay E, Karaguzel A, Caylan R, Heister A, Cremers FP, Cremers CW, Brunner HG, de Brouwer AP, Kremer H. Four novel TMC1 (DFNB7/DFNB11) mutations in Turkish patients with congenital autosomal recessive nonsyndromic hearing loss. Hum Mutat. 2005 Dec;26(6):591. (http://www.ncbi.nlm.nih.gov/pubmed/16287143?dopt=Abstract)
  • Kurima K, Peters LM, Yang Y, Riazuddin S, Ahmed ZM, Naz S, Arnaud D, Drury S, Mo J, Makishima T, Ghosh M, Menon PS, Deshmukh D, Oddoux C, Ostrer H, Khan S, Riazuddin S, Deininger PL, Hampton LL, Sullivan SL, Battey JF Jr, Keats BJ, Wilcox ER, Friedman TB, Griffith AJ. Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function. Nat Genet. 2002 Mar;30(3):277-84. Epub 2002 Feb 19. (http://www.ncbi.nlm.nih.gov/pubmed/11850618?dopt=Abstract)
  • Kurima K, Yang Y, Sorber K, Griffith AJ. Characterization of the transmembrane channel-like (TMC) gene family: functional clues from hearing loss and epidermodysplasia verruciformis. Genomics. 2003 Sep;82(3):300-8. (http://www.ncbi.nlm.nih.gov/pubmed/12906855?dopt=Abstract)
  • Makishima T, Kurima K, Brewer CC, Griffith AJ. Early onset and rapid progression of dominant nonsyndromic DFNA36 hearing loss. Otol Neurotol. 2004 Sep;25(5):714-9. (http://www.ncbi.nlm.nih.gov/pubmed/15354000?dopt=Abstract)
  • NCBI Gene (http://www.ncbi.nlm.nih.gov/gene/117531)
  • Petersen MB, Willems PJ. Non-syndromic, autosomal-recessive deafness. Clin Genet. 2006 May;69(5):371-92. Review. (http://www.ncbi.nlm.nih.gov/pubmed/16650073?dopt=Abstract)
  • OMIM: TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1 (http://omim.org/entry/606706)

 

The resources on this site should not be used as a substitute for professional medical care or advice. Users seeking information about a personal genetic disease, syndrome, or condition should consult with a qualified healthcare professional. See How can I find a genetics professional in my area? (http://ghr.nlm.nih.gov/handbook/consult/findingprofessional) in the Handbook.

 
Reviewed: November 2006
Published: December 16, 2014