TMC1 gene

transmembrane channel like 1

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

From NCBI Gene:

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:

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

Covered on Genetics Home Reference:

From NCBI Gene:

  • Deafness, autosomal dominant 36
  • Deafness, autosomal recessive 7

From UniProt:

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. [MIM:606705]

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. [MIM:600974]

Cytogenetic Location: 9q21.13, which is the long (q) arm of chromosome 9 at position 21.13

Molecular Location: base pairs 72,521,801 to 72,836,351 on chromosome 9 (Homo sapiens Annotation Release 108, GRCh38.p7) (NCBI)

Cytogenetic Location: 9q21.13, which is the long (q) arm of chromosome 9 at position 21.13
  • DFNA36
  • DFNB7
  • DFNB11