EIF4A2
Function
ATP-dependent RNA helicase which is a subunit of the eIF4F complex involved in cap recognition and is required for mRNA binding to ribosome. In the current model of translation initiation, eIF4A unwinds RNA secondary structures in the 5'-UTR of mRNAs which is necessary to allow efficient binding of the small ribosomal subunit, and subsequent scanning for the initiator codon.
Involvement in disease
Neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
NEDHSS
A disorder characterized by global developmental delay, intellectual disability, poor or absent speech, hypotonia, epilepsy, and structural brain anomalies. Inheritance is autosomal dominant or autosomal recessive.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the DEAD box helicase family. eIF4A subfamily.
Alternative names
DDX2B, EIF4F, EIF4A2, Eukaryotic initiation factor 4A-II, eIF-4A-II, eIF4A-II, ATP-dependent RNA helicase eIF4A-2