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USH1 interactome

Five genes have been associated with the clinical USH1 syndrome which also displays autosomal recessive retinitis pigmentosa (arRP). The gene products are located in the inner ear hair cells and the connecting cilium of photoreceptor cells and the synaptic regions of both cell types.  The encoded proteins are multi-domain-containing and each can interact with at least one other USH1 protein, thus forming the USH1 interactome, and they also have other interacting partners. For structural information, check PMID 22311968. The five genes in the USH1 complex are listed with aliases, full names and links to gene report pages:

Myo7a (DFNA11,DFNB2) – myosin VIIA
Ush1c (harmonin, DFNB18, DFNB18A) – USH1 protein network component harmonin
Cdh23 (USH1D, DFNB12, otocadherin, Waltzing) – cadherin-related 23
Pcdh15 (USH1F, DFNB23) – protocadherin related 15
Ush1g (Sans, ANKS4A) – USH1 protein network component sans


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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.