Aliases for DFNB31 Gene
External Ids for DFNB31 Gene
Previous GeneCards Identifiers for DFNB31 Gene
This gene is thought to function in the organization and stabilization of sterocilia elongation and actin cystoskeletal assembly, based on studies of the related mouse gene. Mutations in this gene have been associated with autosomal recessive non-syndromic deafness and Usher Syndrome. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms.[provided by RefSeq, Mar 2010]
GeneCards Summary for DFNB31 Gene
DFNB31 (Deafness, Autosomal Recessive 31) is a Protein Coding gene. Diseases associated with DFNB31 include deafness, autosomal recessive 31 and usher syndrome, type 2d. An important paralog of this gene is USH1C.
UniProtKB/Swiss-Prot for DFNB31 Gene
Necessary for elongation and maintenance of inner and outer hair cell stereocilia in the organ of Corti in the inner ear.