Clarin-1 (CLRN1) (CLRN1)

Clarin-1 (CLRN1) is a four-transmembrane domain protein essential for the structural integrity and function of sensory hair cells in the inner ear and photoreceptor cells in the retina [UniProt P58418]. It is localized to the base of stereocilia and is believed to play a critical role in organizing the actin cytoskeleton and maintaining the stability of ribbon synapses, which are necessary for auditory and visual signal transmission [PubMed 21636704]. Mutations in the CLRN1 gene lead to Usher syndrome type 3A (USH3A), a rare genetic disorder characterized by progressive hearing loss and retinitis pigmentosa [NIH GARD]. Because the disease results from a loss of functional protein, therapeutic strategies focus on restoring the endogenous CLRN1 protein complex through gene replacement therapy. Current research utilizes adeno-associated virus (AAV) vectors to deliver a functional copy of the CLRN1 gene to the cochlea and retina, aiming to halt or slow the progression of sensory loss by re-establishing normal cellular architecture and synaptic function [PubMed 25713277].

Other names

USH3AUsher syndrome type-3A proteinClarin 1

Gene replacement therapy designed to restore endogenous protein expression and the functional protein complex in sensory cells.