Usher syndrome type-1G protein is a
protein that in humans is encoded by the ''USH1G''
gene.
This gene encodes a protein that contains three
ankyrin domains, a class I PDZ-binding
motif
Motif may refer to:
General concepts
* Motif (chess composition), an element of a move in the consideration of its purpose
* Motif (folkloristics), a recurring element that creates recognizable patterns in folklore and folk-art traditions
* Moti ...
and a sterile alpha motif. The encoded protein interacts with
harmonin, which is associated with
Usher syndrome type 1C.
This protein plays a role in the development and maintenance of the auditory and visual systems and functions in the cohesion of hair bundles formed by
inner ear
The inner ear (internal ear, auris interna) is the innermost part of the vertebrate ear. In vertebrates, the inner ear is mainly responsible for sound detection and balance. In mammals, it consists of the bony labyrinth, a hollow cavity in the ...
sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G).
References
Further reading
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External links
GeneReviews/NCBI/NIH/UW entry on Usher Syndrome Type I
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