Gene details
Basic gene annotations are collected from Uniprot
and displayed with links to original sources. A quick link to explore the genomic context with Uniprot Browser
is available.
USH1C - USH1 protein network component harmonin
Function
Anchoring/scaffolding protein that is a part of the functional network formed by USH1C, USH1G, CDH23 and MYO7A that mediates mechanotransduction in cochlear hair cells. Required for normal development and maintenance of cochlear hair cell bundles (By similarity). As part of the intermicrovillar adhesion complex/IMAC plays a role in brush border differentiation, controlling microvilli organization and length. Probably plays a central regulatory role in the assembly of the complex, recruiting CDHR2, CDHR5 and MYO7B to the microvilli tips (PubMed:24725409, PubMed:26812018).
Uniprot BrowserEntrez ID | EnsEMBL ID | Preferred Name | Uniprot ID |
---|---|---|---|
10083 | ENSG00000006611 | USH1C | Q9Y6N9 |
Gene Regulons
A gene
can be associated with multiple causal flows
as a member of multiple regulons
Regulon | Program | # genes | # regulators | # causal flows |
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