RNU2-2
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Template:Cs1 config An Error has occurred retrieving Wikidata item for infobox RNU2-2 is a snRNA gene that encodes one of the functional homologs of U2 spliceosomal RNA. RNU2-2 was previously thought to be a pseudogene,[1] but it has been shown to be functional.[2] Specific heterozygous variants in RNU2-2 cause an autosomal dominant developmental and epileptic encephalopathy, also called RNU2-2 syndrome.[3]
References
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- ^ Page Module:Citation/CS1/styles.css has no content."Entrez Gene: RNA, U2 small nuclear 2". Retrieved 2013-02-27.
- ^ Page Module:Citation/CS1/styles.css has no content.Jackson A, Thaker N, Blakes A, Rice G, Griffiths-Jones S, Balasubramanian M, et al. (June 2025). "Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes". Nature Genetics. 57 (6): 1362–1366. doi:10.1038/s41588-025-02209-y. PMC 12165836. PMID 40442284.
- ^ Page Module:Citation/CS1/styles.css has no content."Developmental and Epileptic Encephalopathy 119; DEE119". omim.org. Retrieved 2025-09-23.
