NIH R01 · 2024
Usher Proteins in the Inner ear Structure and Function
Hearing loss (HL) is an etiologically diverse condition that can occur at any age and severity level, affecting 1 in 500 infants and more than 360 million people globally1; 2. In numerous ethnicities, we have previously identified pathogenic variants in the CIB2 gene encoding Calcium and Integrin-Binding protein 2 (CIB2) as the etiology of HL4-6. In past funding periods, we discovered that CIB2 is expressed in the mouse hair cell stereocilia and binds to the TMC1 and TMC2 components of the hair cell MET complex, and that deafness-causing CIB2 mutations disrupt these interactions. We concluded that CIB2 is essential for the MET function7. We also generated two mouse models carrying the human…
From the public funding record at NIH RePORTER. Describes the funded project, not the reviews below.