Entrez gene ID | | 7399 |
Official gene symbol | | USH2A |
Full name | | Usher syndrome 2A (autosomal recessive, mild) |
Aliases | | ,RP39,US2,USH2,dJ1111A8.1, |
Gene summary | | 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] |
Location | | Chromosome: 1 Locus: 1q41 |
Gene position | | 216596738 - 215796236 Map Viewer |
Gene orientation | | minus |
Gene size | | 800503 bp |
Gene sequence |
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OMIM ID | | 608400 |