Functional Studies of Deafness-Associated Pendrin and Prestin Variants.

ABSTRACT: Pendrin and prestin are evolutionary-conserved membrane proteins that are essential for normal hearing. Dysfunction of these proteins results in hearing loss in humans, and numerous deafness-associated pendrin and prestin variants have been identified in patients. However, the pathogenic impacts of many of these variants are ambiguous. Here, we report results from our ongoing efforts to experimentally characterize pendrin and prestin variants using in vitro functional assays. With previously established fluorometric anion transport assays, we determined that many of the pendrin variants identified on transmembrane (TM) 10, which contains the essential anion binding site, and on the neighboring TM9 within the core domain resulted in impaired anion transport activity. We also determined the

SUBMITTER: Takahashi S 

PROVIDER: S-EPMC10931795 | biostudies-literature | 2024 Feb

REPOSITORIES: biostudies-literature