RNU12 is a component of the riboncleoprotein complex responsible for the splicing (removal) of minor introns. RNU12 interacts with RNU11, RNU6atac and RNU4atac to identify the splice site recognition and 5’ss cleavage sites and affect the 3’cleavage and exon ligation to excise the intron. While virtually all mammalian protein encoding transcripts contain introns recognized by the major spliceosome, there are approximately 700 protein coding genes that contain one or more minor intron. Mutations in either snRNA or nucleoprotein components of the minor spliceosome have been associated with a number of human diseases.
Homozygous complete loss of RNU12 function causes very early embryonic lethality. It is likely that additional phenotypes beyond EOCA and CDAGS are yet to be associated with single nucleotide variants (SNVs) in RNU12, as whole genome sequencing becomes more widely used in clinical evaluations.
RNU12