Dec 05, 2024
RNA, U4 Small Nuclear 2
The RNU4-2 gene is predicted to enable U6 snRNA binding activity, participate in quadruple snRNA and spliceosomal tri-SNP complex assembly, and be part of the U4 snRNP and U4/U6 x U5 tri-snRNP complexes (Alliance of Genome Resources).
In 2024, an international group of researchers found that de novo changes in RNU4-2 cause a neurodevelopmental condition called ReNU syndrome. The researchers estimate that changes in a specific part of this gene, referred to as the critical region, may explain 0.4% of neurodevelopmental disorders worldwide (Chen et al. 2024).
A de novo heterozygous change in this gene was identified in a UDN participant. This participant has been diagnosed with ReNU syndrome.
If you or your loved one has been diagnosed with ReNU syndrome, please consider the following resources:
Interested in learning more about this gene or sharing what you know? Contact us!
