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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …

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 …