RNU4ATAC gene is located on chromosome 2q14.2 in intron 2 of the CLASP1 gene. It encodes the small nuclear RNA U4atac which a component of the minor or U12-dependent spliceosome. This spliceosome is essential for the correct excision of the U12-dependent class of introns in about 800 genes involved in cellular ion channels, DNA replication and repair, transcription, RNA processing and transport, translation, and cytoskeletal organization. Pathogenic variants are located in core minor spliceosome components. A majority of MOPD1 variants are in the 5′ Stem–Loop region of the RNA. LWS and RS variants are more dispersed. Variants are found in compound heterozygosity and homozygosity. LWS, MOPD1 and RS have autosomal recessive inheritance.
RNU4ATAC