Ontology highlight
ABSTRACT:
SUBMITTER: Borck G
PROVIDER: S-EPMC3513554 | biostudies-literature | 2012 Nov
REPOSITORIES: biostudies-literature
Molecular cell 20121011 4
Together with GTP and initiator methionyl-tRNA, translation initiation factor eIF2 forms a ternary complex that binds the 40S ribosome and then scans an mRNA to select the AUG start codon for protein synthesis. Here, we show that a human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2γ (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex. Biochemical studies of human cells overexpressing th ...[more]