Mutations in U4atac
Mutations in U4atac, a component of the minor spliceosome, affect the function and the homeostasis of the Integrator, a complex involved in the 3’-end maturation of snRNAs The Taybi-Linder syndrome (MOPD1) is associated with microcephaly and developmental defects and is due to pathogenic variants in the U4atac snRNA, a component of the minor spliceosome which is essential for the … Continue reading Mutations in U4atac