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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.
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]
Probable ion channel required for the normal function of cochlear hair cells.
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.
|606705 (http://omim.org/entry/606705)||DEAFNESS, AUTOSOMAL DOMINANT 36|
|600974 (http://omim.org/entry/600974)||DEAFNESS, AUTOSOMAL RECESSIVE 7|
|606706 (http://omim.org/entry/606706)||TRANSMEMBRANE CHANNEL-LIKE PROTEIN 1|
Cytogenetic Location: 9q21.12
Molecular Location on chromosome 9: base pairs 72,521,801 to 72,836,351
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? (http://ghr.nlm.nih.gov/handbook/howgeneswork/genelocation) in the Handbook.
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.
See How are genetic conditions and genes named? (http://ghr.nlm.nih.gov/handbook/mutationsanddisorders/naming) in the Handbook.
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.
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.