Biology:RNU2-2
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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
- ↑ "Entrez Gene: RNA, U2 small nuclear 2". https://www.ncbi.nlm.nih.gov/gene?db=gene&cmd=retrieve&list_uids=26855.
- ↑ "Analysis of R-loop forming regions identifies RNU2-2 and RNU5B-1 as neurodevelopmental disorder genes". Nature Genetics 57 (6): 1362–1366. June 2025. doi:10.1038/s41588-025-02209-y. PMID 40442284.
- ↑ "Developmental and Epileptic Encephalopathy 119; DEE119" (in en-us). https://omim.org/entry/621304.
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