Symbol: Name: ID: |
USH1G Usher syndrome 1G (autosomal recessive) GFS:5476 |
Gene name: | USH1G |
Chromosome: | 17q25.2 |
Previous Symbols: | |
Previous Names: | |
Aliases: | Sans, FLJ33924, ANKS4A |
Name Aliases: | |
Locus Type: | gene with protein product |
Mouse Genome Database ID: | MGI:2450757 | Rat Genome Database ID: | RGD:1304551 |
HGNC ID: | HGNC:16356 | RefSeq IDs: | NM_173477 |
Entrez Gene ID: | 124590 | Ensembl Gene ID: | ENSG00000182040 |
VEGA IDs: | UniProt ID: | Q495M9 | |
UCSC ID: | uc002jme.1 | OMIM ID: | 607696 |
Pubmed: | PMID12588794 | ||
CCDS IDs: | CCDSCCDS32725.1 |
Usher syndrome type-1G protein is a protein that in humans is encoded by the USH1G gene.
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, Jul 2008]. Publication Note: This RefSeq record includes a subset of the publications that are available for this gene. Please see the Gene record to access additional publications.
Function: Unknown. Required for normal hearing. May have a role in the development and maintenance of the stereocilia bundles. Might function as an anchoring/scaffolding protein in hair cells. Could be involved in the functional network formed by USH1C, CDH23 and MYO7A that is required for cohesion of the growing hair bundle.
Products for USH1G gene
Catalog | Product Name | Application | Company |
GFS:E05476 | Usher syndrome 1G (autosomal recessive); ELISA kit | ELISA | n/a |
GFS:A05476 | Usher syndrome 1G (autosomal recessive); Anti | ANTIBODIES | n/a |
GFS:P05476 | Usher syndrome 1G (autosomal recessive); Protien | Protien | n/a |