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CIB2 as a Ca <sup>2+</sup> Sensor for Auditory Mechano-Electrical Transduction and Linked to Genetic-Heterogeneity of <i>TMC1</i> in Hearing Loss

2024-07-24

Abstract excerpt

<h4>Summary</h4> Non-syndromic sensorineural hearing loss is characterized by genetic heterogeneity, leading to potential clinical misdiagnosis. TMC1 , a unique causative gene associated with deafness, exhibits variants with autosomal dominant and recessive inheritance patterns. TMC1 codes for the transmembrane channel-like 1 (TMC1), a key component of the mechano-electrical transduction (MET) machinery for hea...

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Literature Corpus work
77e0e9a6-fb4f-54b5-a870-e6a07256432f
DOI
10.1101/2024.07.24.604958
Open publication

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CIB2 as a Ca <sup>2+</sup> Sensor for Auditory Mechano-Electrical Transduction and Linked to Genetic-Heterogeneity of <i>TMC1</i> in Hearing LossDOI 10.1101/2024.07.24.604958
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