Aliases for USH1G Gene
External Ids for USH1G Gene
This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif and a sterile alpha motif. The encoded protein interacts with harmonin, which is associated with Usher syndrome type 1C. This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by inner ear sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013]
GeneCards Summary for USH1G Gene
USH1G (Usher Syndrome 1G (Autosomal Recessive)) is a Protein Coding gene. Diseases associated with USH1G include usher syndrome, type 1g and usher syndrome, type 1c. GO annotations related to this gene include protein homodimerization activity. An important paralog of this gene is ANKS4B.
UniProtKB/Swiss-Prot for USH1G Gene
Required for normal development and maintenance of cochlear hair cell bundles. Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal hearing.