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TMC1

TMC1

The information on this page was automatically extracted from online scientific databases.

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.

Read more about gene names and symbols on the About page.

What is the normal function of the TMC1 gene?

From NCBI GeneThis link leads to a site outside Genetics Home Reference.:

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 UniProt (TMC1_HUMAN)This link leads to a site outside Genetics Home Reference.:

Probable ion channel required for the normal function of cochlear hair cells.

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

Genetics Home Reference provides information about nonsyndromic hearing loss, which is associated with changes in the TMC1 gene.
UniProt (TMC1_HUMAN)This link leads to a site outside Genetics Home Reference. provides the following information about the TMC1 gene's known or predicted involvement in human disease.

Deafness, autosomal dominant, 36 (DFNA36): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA36 is a bilateral hearing loss, and begins at 5-10 years of age. It progresses to profound deafness within 10-15 years. The disease is caused by mutations affecting the gene represented in this entry.

Deafness, autosomal recessive, 7 (DFNB7): A form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. The disease is caused by mutations affecting the gene represented in this entry.

NCBI GeneThis link leads to a site outside Genetics Home Reference. lists the following diseases or traits (phenotypes) known or believed to be associated with changes in the TMC1 gene.
  • Deafness, autosomal dominant 36
  • Deafness, autosomal recessive 7
OMIM.orgThis link leads to a site outside Genetics Home Reference., a catalog designed for genetics professionals and researchers, provides the following information about the TMC1 gene and its association with health conditions.
OMIM
Number
Title

Where is the TMC1 gene located?

Cytogenetic Location: 9q21.12

Molecular Location on chromosome 9: base pairs 72,521,801 to 72,836,351

(Homo sapiens Annotation Release 107, GRCh38.p2) (NCBIThis link leads to a site outside Genetics Home Reference.)

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 72,521,801 to base pair 72,836,351 on chromosome 9.

See How do geneticists indicate the location of a gene? 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

Where can I find general information about genes?

The Handbook provides basic information about genetics in clear language.

These links provide additional genetics resources that may be useful.

What glossary definitions help with understanding TMC1?

autosomal ; autosomal dominant ; autosomal recessive ; bilateral ; channel ; gene ; hair cells ; postlingual ; prelingual ; recessive ; sensorineural ; sensorineural hearing loss ; transmembrane

You may find definitions for these and many other terms in the Genetics Home Reference Glossary.

See also Understanding Medical Terminology.

 

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? in the Handbook.

 
Published: February 1, 2016