Entrez 7399 | Ensembl ENSG00000042781 | |
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External IDs MGI: 1341292 HomoloGene: 66151 GeneCards: USH2A |
Usherin is a protein that in humans is encoded by the USH2A gene.
This gene encodes the protein Usherin 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.
References
USH2A Wikipedia(Text) CC BY-SA