Gene Symbol | USH2A |
Entrez Gene ID | 7399 |
Full Name | usherin |
Synonyms | RP39,US2,USH2,dJ1111A8.1 |
General protein information |
|
Gene Type | protein-coding |
Organism | Homo sapiens(human) |
Genome | |
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, Dec 2008]. |
Disorder MIM: | |
Disorder Html: | Usher syndrome, type 2A, 276901 (3); Retinitis pigmentosa 39, 613809 (3) |