RNA, U5B small nuclear 1 (RNU5B-1)

RNA, U5B small nuclear 1 (RNU5B-1) is a non-coding RNA gene encoding the U5B-1 snRNA, a core part of the spliceosomal machinery in eukaryotic cells[3][1][7]. U5B-1 is one of several U5 paralogs and forms a critical element of the U5 snRNP complex, which aligns exons for splicing during pre-mRNA processing[3][1]. Mutations in constrained regions of RNU5B-1 have recently been associated with neurodevelopmental disorders characterized by global developmental delay, macrocephaly, seizures, and failure to thrive[1]. While RNU5B-1 plays no role as a classical drug target or receptor, it is an essential structural component for mRNA maturation, and pathogenic variants provide a genetic basis for certain unsolved rare diseases[1][3][7].

Other names

U5B1NEDSJLRNU5BRNU5B-1PRNA, U5B small nuclear pseudogene 1RNU5B-1