RNA, U4atac small nuclear (U12-dependent splicing) (RNU4ATAC)

RNA, U4atac small nuclear (U12-dependent splicing) is a highly conserved small nuclear RNA (snRNA) encoded by the human RNU4ATAC gene and is an essential component of the minor (or U12-dependent) spliceosome[1]. This ribonucleoprotein complex is responsible for catalyzing the removal of U12-type (minor) introns from precursor messenger RNAs, which constitutes less than 1% of all introns in the human genome but is crucial for the normal expression of over 700–850 genes, many of which play roles in cell development, immunity, and organogenesis[1][4]. The U4atac snRNA, together with U6atac and associated proteins, enables proper spliceosome assembly and catalytic function through specific secondary structure features and protein interactions[3]. Pathogenic mutations in RNU4ATAC disrupt minor intron splicing, leading to rare autosomal recessive developmental disorders such as Taybi-Linder syndrome, Roifman syndrome, and Lowry-Wood syndrome, with features that can include growth restriction, microcephaly, skeletal anomalies, immunodeficiency, and ciliopathy-related phenotypes[1][2][4]. RNU4ATAC is not a druggable receptor or enzyme; it is not considered a classic therapeutic target, though its disease relevance and role in splicing make it a critical focus of genetic and developmental biology[1][3][4].

Other names

RNU4ATACRNU4ATAC1U4atacU4atac snRNALWSMOPD1RFMNTALSU4ATACRNA, U4atac small nuclear (U12-dependent splicing)