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Gene Symbol USH2A
Synonyms dJ1111A8.1 | RP39 | US2 | USH2
Gene Description USH2A, usherin, encodes a basement membrane protein whose function is unclear but appears to be important in cochlear and retinal development (PMID: 11788194). Germline mutations in USH2A are commonly reported in Usher syndrome (PMID: 32093671) and in non-syndromic retinitis pigmentosa (PMID: 31904091), and mutations in various cancers have also been reported (PMID: 11788194, Cancer Res April 15, 2012 72; 3959).
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