RNU4ATAC
Description
The RNU4ATAC (RNA, U4atac small nuclear) is a snRNA gene located on chromosome 2.
The RNU4ATAC gene encodes a small nuclear RNA (snRNA) called RNA, U4atac small nuclear (U12-dependent splicing). This snRNA is a component of the U12-dependent minor spliceosome complex, which is essential for splicing approximately 700 specific introns in the human genome. The U12-dependent spliceosome complex consists of U11, U12, U5, and U6atac snRNAs. Defects in RNU4ATAC can lead to several human inherited syndromes, including Taybi Linder syndrome, Roifman syndrome, and Lowry-Wood syndrome, all of which are inherited in an autosomal recessive manner. The gene is located on chromosome 2 (2q14.2) and is a single copy gene. It is embedded within an intron of the protein coding CLASP1 gene but is transcribed in the antisense direction from CLASP1.
RNU4ATAC is also known as LWS, MOPD1, RFMN, RNU4ATAC1, TALS, U4ATAC.
Associated Diseases
- Microcephalic osteodysplastic primordial dwarfism types I and III
- Microcephalic osteodysplastic primordial dwarfism, type I
- Roifman syndrome
- Lowry-Wood syndrome
