2024年12月24日 · 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.

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...

Ubiquitous expression in ovary (RPKM 61.4), lymph node (RPKM 53.4) and 25 other tissues. 由该基因编码的蛋白质是参与将甲硫氨酰-tRNA (i) 募集到 40 S 核糖体亚基的异源三聚体 GTP 结合蛋白的最大亚基。 [RefSeq 提供，2010 年 1 月]

2024年11月27日 · 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.

Our data suggest that the p.Pro432Ser mutation impairs eIF2γ function leading to a relatively mild novel phenotype compared with previous EIF2S3 mutations. Our studies support a critical role for EIF2S3 in human hypothalamo-pituitary development and function, and glucose regulation, expanding the ra …

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.

We have identified a C-terminal frameshift mutation (Ile465Serfs) in the EIF2S3 gene in three families with MEHMO syndrome and a novel maternally inherited missense EIF2S3 variant (c.324T>A; p.Ser108Arg) in another male patient with less severe clinical symptoms.

2025年2月8日 · Orthologous to several human genes including EIF2S3 (eukaryotic translation initiation factor 2 subunit gamma). [provided by Alliance of Genome Resources, Feb 2025]

2022年4月26日 · 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).