RGD Reference Report - Structures of usher syndrome 1 proteins and their complexes. - Rat Genome Database

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Structures of usher syndrome 1 proteins and their complexes.

Authors: Pan, L  Zhang, M 
Citation: Pan L and Zhang M, Physiology (Bethesda). 2012 Feb;27(1):25-42. doi: 10.1152/physiol.00037.2011.
RGD ID: 8547546
Pubmed: PMID:22311968   (View Abstract at PubMed)
DOI: DOI:10.1152/physiol.00037.2011   (Journal Full-text)

Usher syndrome 1 (USH1) is the most common and severe form of hereditary loss of hearing and vision. Genetic, physiological, and cell biological studies, together with recent structural investigations, have not only uncovered the physiological functions of the five USH1 proteins but also provided mechanistic explanations for the hearing and visual deficiencies in humans caused by USH1 mutations. This review focuses on the structural basis of the USH1 protein complex organization.


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