Hubbry Logo
search
logo
USH2A
USH2A
current hub
1407692

USH2A

logo
Community Hub0 Subscribers
Write something...
Be the first to start a discussion here.
Be the first to start a discussion here.
See all
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 pentraxin 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.

See all
User Avatar
No comments yet.