Relevance to Autism

Duplications involving RNPS1 were statistically enriched (P=0.003671) in a cohort of 57,356 patients with neurodevelopmental disorders compared to a cohort of 20,474 controls. A de novo 6.03 kb duplication encompassing the RNPS1 gene was identified in a female patient from the Signature Genomic Laboratories database (GC62115) with autistic disorder, developmental delay, dysmorphic features, seizure disorder, and multiple congenital anomalies (Nguyen et al., 2013).

Molecular Function

This gene encodes a protein that is part of a post-splicing multiprotein complex involved in both mRNA nuclear export and mRNA surveillance. mRNA surveillance detects exported mRNAs with truncated open reading frames and initiates nonsense-mediated mRNA decay (NMD). When translation ends upstream from the last exon-exon junction, this triggers NMD to degrade mRNAs containing premature stop codons. This protein binds to the mRNA and remains bound after nuclear export, acting as a nucleocytoplasmic shuttling protein.

External Links

References