CLIC5 functions in hearing and deafness
Royal National Institute for Deaf People
Indiana University
Mutations in CLIC5, which encodes a protein of undetermined function, cause hearing loss by unknown mechanisms. CLIC5 is concentrated at the basal taper region of stereocilia and interacts with taperin, which could modulate the actin cytoskeleton in cochlear hair cells. By performing comprehensive genetic, biochemical and histological analyses, the researchers will investigate whether CLIC5 could regulate taperin function/localization in hair cells and inhibiting taperin expression could restore the hearing in CLIC5-deficient mouse. In addition, an unbiased screening will be performed to determine interaction partners for CLIC5 that functionally cooperate during the development of hair cells.
1.1 Normal biological development and functioning