Gene:
Usher syndrome 2A (autosomal recessive, mild)
Gene ID:
206332
Symbol:
USH2A
Species:
1000
Description:
This gene encodes a protein that contains laminin EGF motifs, a pentaxin domain, and many fibronectin type III motifs. The encoded basement membrane-associated protein 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. Alternatively spliced transcript variants that encode different isoforms have been described.