XB-GENEPAGE-1018490
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ush1c
???displayGene.name???:
USH1 protein network component harmonin
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(
Nomenclature history )
???displayGene.geneFunction???
PDZ domain
AI Protein Function
:
ush1c encodes a multi‑PDZ domain scaffolding protein that participates in the development and maintenance of mechanosensory hair bundles in the inner ear and otic vesicle. The protein localizes to the ...[+]
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Diseases:
Disease Ontology:
autosomal recessive nonsyndromic deafness
MIM:
USHER SYNDROME, TYPE I; USH1
External Links:
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