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Beschreibung

Transmembrane channel-like protein 1 (UniProt: Q8R4P5, also known as Beethoven protein, Deafness protein, Transmembrane cochlear-expressed protein 1, TMC1) is encoded by the Tmc1 (also known as Bth, dn) gene (Gene ID: 13409) in murine species. TMC1 is a multi-pass membrane protein that forms ion channel required for the normal function of cochlear hair cells. It is detected in cochlear inner and outer hair cells and in neurosensory epithelia of the vestibular end organs. Its expression is also reported in cortex, cerebellum, eye, colon, ovary, and testis. It is expressed at low levels in temporal bone from embryonic day 14 to day 1 after birth in mice and increases significantly (8 to 16 fold) at day 5, 10 and 20 and then continues to be expressed up to day 90. Two isoforms of TMC1 have been reported in mice that are produced by alternative splicing. Mutations in Tmc1 gene can cause hearing loss in humans and mice. Heterozygotes show progressive hair-cell degeneration from day 20 onwards in mice, leading to severe depletion of inner hair cells and scattered loss of outer hair cells, and progressive loss of the Preyer reflex from around day 30. Homozygotes show almost complete degeneration of inner hair cells, and little or no Preyer reflex at any age.