Eukaryotic translation initiation factor 2 (eIF2) functions in the early steps of protein synthesis by forming a ternary complex with GTP and initiator tRNA and binding to a 40S ribosomal subunit. eIF2 is composed of three subunits, alpha (α), beta (β), and gamma (γ, this article), with the protein encoded by this gene representing the gamma sub...

Mar 28, 2025 · EIF2S3 (Eukaryotic Translation Initiation Factor 2 Subunit Gamma) is a Protein Coding gene. Diseases associated with EIF2S3 include Mehmo Syndrome and Neonatal Diabetes. Among its related pathways are Peptide chain elongation and Activation of the mRNA upon binding of the cap-binding complex and eIFs, and subsequent binding to 43S.

The human X-chromosomal neurological disorder characterized by intellectual disability and microcephaly is caused by a missense mutation in eIF2gamma (encoded by EIF2S3), the core subunit of the heterotrimeric eIF2 complex.

We report a novel hemizygous EIF2S3 variant, p.Pro432Ser, in the three boys (heterozygous in their mothers). EIF2S3 expression was detectable in the developing pituitary gland and pancreatic islets of Langerhans. Cells lacking EIF2S3 had increased caspase activity/cell death.

Apr 26, 2022 · The EIF2S3 gene encodes the core subunit of eukaryotic translation initiation factor-2 (eIF2), a heterotrimeric GTP-binding protein involved in the recruitment of methionyl-tRNA (i) to the 40S ribosomal subunit. The eIF2 complex is essential for protein synthesis (summary by Moortgat et al., 2016).

EIF2S3 is a prognostic marker in Kidney renal clear cell carcinoma, Kidney renal papillary cell carcinoma

Morpholino-based knockdown of the zebrafish EIF2S3 ortholog (eif2s3) recapitulates the human microcephaly and short stature phenotype, supporting the pathogenicity of the identified variants.

Our studies support a critical role for EIF2S3 in human hypothalamo-pituitary development and function, and glucose regulation, expanding the range of phenotypes associated with EIF2S3 mutations beyond classical MEHMO syndrome.

Nov 27, 2024 · Clinical resource with information about EIF2S3, MEHMO syndrome, and available tests. There are links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB and clinicaltrials.gov.

Apr 7, 2024 · Our studies support a critical role for EIF2S3 in human hypothalamo-pituitary development and function, and glucose regulation, expanding the range of phenotypes associated with EIF2S3 mutations beyond classical MEHMO syndrome.