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

Gene: OTOP2

Alternate names for this Gene: -

Gene Summary:

Gene is located in Chromosome: 17

Location in Chromosome : 17q25.1

Description of this Gene: otopetrin 2

Type of Gene: protein-coding

rs104894651 in USH1G;OTOP2 gene and USHER SYNDROME, TYPE IG 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.

PMID 20142502 2010 The structure of the harmonin/sans complex reveals an unexpected interaction mode of the two Usher syndrome proteins.

PMID 21697857 2011 Clinical utility gene card for: Usher syndrome.

rs876657419 in USH1G;OTOP2 gene and Usher Syndrome, Type I PMID 21569298 2011 Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis.