ea0045p70 | Pituitary and growth | BSPED2016
Gregory Louise
, Ferreira Carolina
, Williams Hywel
, Rahman Sofia
, Alatzoglou Kyriaki
, Kapoor Ritika
, Jones Peter
, Hussain Khalid
, Gaston-Massuet Carles
, Qasim Waseem
, Dattani Mehul
Background: EIF2S3 (NM_001415; Xp22.11) mutations have previously been reported in a single pedigree with microcephaly and developmental delay. The gene encodes the eukaryotic translation initiation factor 2 subunit 3 (eIF2γ), the largest of three EIF2 subunits. EIF2 is a heterotrimeric GTP-binding protein, which initiates protein synthesis. It forms a ternary complex, mediating recruitment of initiator methionyl-tRNA to the 40S ribosomal subunit to scan the mRNA...