Entrez gene ID | | 124590 |
Official gene symbol | | USH1G |
Full name | | Usher syndrome 1G (autosomal recessive) |
Aliases | | ,ANKS4A,FLJ33924,SANS, |
Gene 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). [provided by RefSeq] |
Location | | Chromosome: 17 Locus: 17q25.1 |
Gene position | | 72919351 - 72912176 Map Viewer |
Gene orientation | | minus |
Gene size | | 7176 bp |
Gene sequence |
| |
OMIM ID | | 607696 |
|