Gene: USH1G
Alternate names for this Gene: ANKS4A|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). Alternative splicing results in multiple transcript variants.
Gene is located in Chromosome: 17
Location in Chromosome : 17q25.1
Description of this Gene: USH1 protein network component sans
Type of Gene: protein-coding
rs397517925 in
USH1G gene and
USHER SYNDROME, TYPE IG
PMID 20142502 2010 The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.
PMID 16283141 2005 A novel D458V mutation in the SANS PDZ binding motif causes atypical Usher syndrome.
PMID 12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.
rs397515345 in
USH1G gene and
Usher Syndrome, Type I
PMID 11941484 2002 A novel locus for Usher syndrome type I, USH1G, maps to chromosome 17q24-25.
PMID 12588794 2003 Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin.