| Symbol: Name: ID: |
USH2A Usher syndrome 2A (autosomal recessive, mild) GFS:2383 |
| Gene name: | USH2A |
| Chromosome: | 1q41 |
| Previous Symbols: | USH2 |
| Previous Names: | |
| Aliases: | RP39 |
| Name Aliases: | usherin |
| Locus Type: | gene with protein product |
| Mouse Genome Database ID: | MGI:1341292 | Rat Genome Database ID: | |
| HGNC ID: | HGNC:12601 | RefSeq IDs: | NM_007123 |
| Entrez Gene ID: | 7399 | Ensembl Gene ID: | ENSG00000042781 |
| VEGA IDs: | OTTHUMG00000037079 | UniProt ID: | O75445 |
| UCSC ID: | uc001hku.1 | OMIM ID: | 608400 |
| Pubmed: | PMID9624053 PMID 10729113 | ||
| CCDS IDs: | CCDSCCDS1516.1 CCDS CCDS31025.1 | ||
Usherin is a protein that in humans is encoded by the USH2A gene.
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The protein is found in the basement membrane, and may be important in development and homeostasis of the inner ear and retina. Mutations within this gene have been associated with Usher syndrome type IIa and retinitis pigmentosa. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq].
Function: Involved in hearing and vision.
Products for USH2A gene
| Catalog | Product Name | Application | Company |
| GFS:E02383 | Usher syndrome 2A (autosomal recessive, mild); ELISA kit | ELISA | n/a |
| GFS:A02383 | Usher syndrome 2A (autosomal recessive, mild); Anti | ANTIBODIES | n/a |
| GFS:P02383 | Usher syndrome 2A (autosomal recessive, mild); Protien | Protien | n/a |
