ERI1 is an evolutionarily conserved 3′–5′ exoribonuclease involved in pathways like 5.8S rRNA processing and histone mRNA turnover. It has an amino-terminal nucleic-acid-binding domain (SAP domain) and a carboxy-terminal 3′ exonuclease domain of the DEDDh family. All reported nonsense variants have been predicted to undergo nonsense-mediated decay.
ERI1 Hoxha-Aliu syndrome