UniProt Protein Function: | TMC1: Required for the normal function of cochlear hair cells. Defects in TMC1 are the cause of deafness autosomal dominant type 36 (DFNA36). DFNA36 is a form of 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. Defects in TMC1 are the cause of deafness autosomal recessive type 7 (DFNB7); also known as autosomal recessive neurosensory deafness type 11 (DFNB11). This hearing loss is congenital and profound. Belongs to the TMC family. |
UniProt Protein Details: | Protein type:Membrane protein, integral; Membrane protein, multi-pass Chromosomal Location of Human Ortholog: 9q21.13 Disease: Deafness, Autosomal Dominant 36; Deafness, Autosomal Recessive 7 |
NCBI Summary: | 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] |
UniProt Code: | Q8TDI8 |
NCBI GenInfo Identifier: | 212286376 |
NCBI Gene ID: | 117531 |
NCBI Accession: | Q8TDI8.2 |
UniProt Secondary Accession: | Q8TDI8,A8MVZ2, B1AM91, |
UniProt Related Accession: | Q8TDI8 |
Molecular Weight: | 88kDa |
NCBI Full Name: | Transmembrane channel-like protein 1 |
NCBI Synonym Full Names: | transmembrane channel like 1 |
NCBI Official Symbol: | TMC1 |
NCBI Official Synonym Symbols: | DFNB7; DFNA36; DFNB11 |
NCBI Protein Information: | transmembrane channel-like protein 1 |
UniProt Protein Name: | Transmembrane channel-like protein 1 |
UniProt Synonym Protein Names: | Transmembrane cochlear-expressed protein 1 |
Protein Family: | AN1-type zinc finger protein |
UniProt Gene Name: | TMC1 |