Aliases for USH2A Gene
External Ids for USH2A Gene
Previous HGNC Symbols for USH2A Gene
Previous GeneCards Identifiers for 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, Dec 2008]
GeneCards Summary for USH2A Gene
USH2A (Usherin) is a Protein Coding gene. Diseases associated with USH2A include Usher Syndrome, Type Iia and Retinitis Pigmentosa 39. Gene Ontology (GO) annotations related to this gene include collagen binding and myosin binding. An important paralog of this gene is LAMA1.
UniProtKB/Swiss-Prot Summary for USH2A Gene
Involved in hearing and vision as member of the USH2 complex. In the inner ear, required for the maintenance of the hair bundle ankle formation, which connects growing stereocilia in developing cochlear hair cells. In retina photoreceptors, the USH2 complex is required for the maintenance of periciliary membrane complex that seems to play a role in regulating intracellular protein transport.