Article
Expression of two major isoforms of MYO7A in the retina: Considerations for gene therapy of Usher syndrome type 1B.
Vision research - 1 Nov 2023
Gilmore W Blake, Hultgren Nan W, Chadha Abhishek, Barocio Sonia B, Zhang Joyce, Kutsyr Oksana, Flores-Bellver Miguel, Canto-Soler M Valeria, Williams David S
Abstract excerpt
Usher syndrome type 1B (USH1B) is a deaf-blindness disorder, caused by mutations in the MYO7A gene, which encodes the heavy chain of an unconventional actin-based motor protein. Here, we examined the two retinal isoforms of MYO7A, IF1 and IF2. We compared 3D models of the two isoforms and noted that the 38-amino acid region that is present in IF1 but absent from IF2 affects the C lobe of the FERM1 domain and the...
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