Missing content? – Request curation!
Request curation for specific Genes, variants, or PubMed publications.
Have questions, comments or suggestions? - Let us know!
Email us at : email@example.com
|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).|