USH1G, Official Symbol USH1Gprovided by HGNC Official Full Name USH1 protein network component sansprovided by HGNC Primary source HGNC:HGNC:16356 See related Ensembl:ENSG00000182040 MIM:607696; AllianceGenome:HGNC:16356 Gene type protein coding RefSeq status REVIEWED Organism Homo sapiens Lineage Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo Also known as SANS; ANKS4A Summary 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] Expression Biased expression in esophagus (RPKM 1.1), skin (RPKM 0.6) and 6 other tissues See more Orthologs mouse all