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Protein Page:
TMC1 (human)

Overview
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. Note: This description may include information from UniProtKB.
Protein type: Membrane protein, integral; Membrane protein, multi-pass
Chromosomal Location of Human Ortholog: 9q21.12
Disease: Deafness, Autosomal Dominant 36; Deafness, Autosomal Recessive 7
Reference #:  Q8TDI8 (UniProtKB)
Alt. Names/Synonyms: DFNA36; DFNB11; DFNB7; TMC1; transmembrane channel-like 1; Transmembrane channel-like protein 1; Transmembrane cochlear-expressed protein 1; transmembrane, cochlear expressed, 1
Gene Symbols: TMC1
Molecular weight: 87,768 Da
Basal Isoelectric point: 6.22  Predict pI for various phosphorylation states
Select Structure to View Below

TMC1

Protein Structure Not Found.


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