This gene is thought to function in the organization andnstabilization of sterocilia elongation and actin cystoskeletalnassembly, based on studies of the related mouse gene. Mutations innthis gene have been associated with autosomal recessivennon-syndromic deafness and Usher Syndrome. Alternative splicing ofnthis gene results in multiple transcript variants encodingndifferent isoforms.
应用类型
WB,IHC
免疫原
This DFNB31 antibody is generated from rabbits immunized with a KLH conjugated synthetic peptide between 378-406 amino acids from the Central region of human DFNB31.
