Spectrum of ABCC1 Gene Mutations and Their Roles in Non-syndromic Deafness
ZHOU Shiyu
LI Yunlong
Abstract：The ABCC1 gene was first proposed as a pathogenic gene in hereditary deafness,mainly causing non-syndromic deafness.The ABCC1 gene encodes multidrug resistance-associated protein 1,which is involved in substance transport and effection across the blood-labyrinthian barrier.It maintains the stability of the labyrinthine microenviron-ment in the inner ear.However,the function of ABCC1 and its roles in pathogenesis in inner ear disorders have not been fully elucidated.This paper reviews the progress of research on the ABCC1 gene in hereditary deafness to provide a new basis for the research on theABCC1 gene.
Keywords：ABCC1 genehereditary deafnessblood-labyrinth barrier
Publication Date：2024-04-28
Online Publishing Date：2025-08-15(First online date of this platform, not the publication date of the document)
Pages：4( 343-346 )