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).
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Protein Aliases: Scaffold protein containing ankyrin repeats and SAM domain; Usher syndrome 1G (autosomal recessive); Usher syndrome type-1G protein
Gene Aliases: ANKS4A; SANS; USH1G
UniProt ID: (Human) Q495M9
Entrez Gene ID: (Human) 124590