Overview

SANS


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A scaffold protein (scaffold protein containing ankyrin repeats and SAM domain) localized to the apical region of cochlear and vestibular hair cell bodies but not found in stereocilia. It interacts with harmonin and myosin 7A and it has been proposed that it controls hair bundle cohesion and development through its interactions with these stereocilia-associated proteins. Mutations cause Usher's syndrome (type 1G). The murine sans gene is in the critical region of the Jackson shaker mouse mutation on chromosome 10 which has syntenic homology with a region of human chromosome 17 to which the Usher's syndrome type IG maps.

Subjects: Medicine and Health.


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