| Protein Name | USH1 protein network component sans |
|---|---|
| Organism | Homo sapiens |
| Gene ID | 124590 |
| Gene Symbol | USH1G |
| UniProt | Q495M9 (USH1G_HUMAN), B4DL95 (B4DL95_HUMAN) |
| Relationships |
Total Number of functionally related compound(s) :
189
Total Number of Articles : 211 |
Description |
USH1 protein network component sans |
| Gene Summary |
This gene encodes a protein that contains three ankyrin domains, a class I PDZ-binding motif 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 sensory cells. Mutations in this gene are associated with Usher syndrome type 1G (USH1G). Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2013] |
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| Properties | |