Ask about this productRelated genes to: EIF2B3 antibody
- Gene:
- EIF2B3 NIH gene
- Name:
- eukaryotic translation initiation factor 2B subunit gamma
- Previous symbol:
- -
- Synonyms:
- EIF2Bgamma, EIF-2B
- Chromosome:
- 1p34.1
- Locus Type:
- gene with protein product
- Date approved:
- 1998-10-16
- Date modifiied:
- 2015-11-16
Related products to: EIF2B3 antibody
Related articles to: EIF2B3 antibody
- Valine to glutamate substitution at residue 600 of the BRAF oncogene (V600EBRAF mutation) is prevalent in human colorectal cancers with a serrated histopathology and is thought to be a founder mutation. Using a conditional knock-in mouse model we have previously demonstrated that V600EBraf drives crypt hyperplasia in the short term as well as shortened survival linked to increased tumour burden in the long-term. These phenotypes are associated with induction of gene signatures for E2F targets, MYC signalling, G2/M transition, canonical Wnt signalling, and cholesterol biosynthesis. Although these gene signatures are reverted by MEK inhibition, there remains a lack of understanding of the signalling pathways involved, particularly the mechanism of crosstalk between the MAPK and Wnt pathways. Here, we have examined a role for phosphorylation of GSK3αβ isoforms at residues S21/S9. By introducing homozygous knock-in mutations for Gsk3αβS9A/S21A onto the V600EBraf background, we unexpectedly show a marginal effect of these mutations on further increasing crypt proliferation. However, this impact is lost in the long-term as there are no significant differences in mouse survival, tumour burden or tumour grade. Consistently, the Gsk3αβ knock-in mutations do not change the transcriptional programme induced by V600EBraf, except for 3 genes (Ephx4, Eif2b3 Ppp1r13l) whose expression is significantly altered, potentially contributing to the short-term increase in crypt hyperplasia. Overall, our data show that therapeutic strategies targeting GSK3αβ phosphorylation at serines 21/9 are not worthwhile options for V600EBRAF colorectal cancers. - Source: PubMed
Publication date: 2026/03/06
Farahmand PooyehRzasa PaulinaGreen CalebHey FionaGiblett SusanJin HongWest KevinSylvius Nicolas BPritchard Catrin ARufini Alessandro - Carcass weight (CW) is a major determinant of beef yield and market value in Korea, yet the genetic basis of this trait remains largely unexplored in cattle from Jeju Island. In this study, we performed a genome-wide association study (GWAS) using both a mixed linear model (MLM) and the FarmCPU approach, followed by pathway and network analyses to identify loci and biological functions underlying CW variation. A total of 256 Jeju cattle (92 Jeju Black and 164 Jeju Black × Hanwoo crossbreds) were initially sampled. One crossbred sample failed genotyping, leaving 255 animals (92 Jeju Black and 163 crossbreds) for analysis. Animals were genotyped using the Illumina BovineSNP50 v3 BeadChip, and 39,055 high-quality single nucleotide polymorphisms (SNPs) were retained after quality control. The MLM analysis detected no genome-wide significant associations, whereas the FarmCPU analysis identified six significant loci on chromosomes 3, 5, 6, 10, and 13, each explaining 2.55-9.58% of the phenotypic variance. Candidate genes located near these loci included , , , , , and two uncharacterized protein-coding genes. Functional enrichment analysis identified biologically relevant pathways including lysine degradation, tryptophan metabolism, glycerolipid metabolism, fatty acid biosynthesis, extracellular matrix-receptor interaction, and signaling cascades such as PI3K-Akt and Rap1, although most pathways were not statistically significant after FDR correction. Protein-protein interaction (PPI) network analysis using STRING highlighted modules of signaling, extracellular matrix, and metabolic genes. These clusters suggest that coordinated interactions among these pathways contribute to carcass growth and development. These findings provide new insights into the molecular basis of CW in Jeju Black and Hanwoo × Jeju Black crossbred cattle and identify candidate genes and pathways that may be useful for genomic selection and the sustainable improvement of Jeju Black cattle populations. - Source: PubMed
Publication date: 2025/11/28
Won MiyoungLee JonganShin Sang-MinLee Seung-EunKim Won-JaeKim Eun-TaeKim Tae-HeePark Hee-BokShokrollahi Borhan - Vanishing white matter disease (VWMD) is a rare autosomal recessive leukoencephalopathy. It is typified by a gradual loss of white matter in the brain and spinal cord, which results in impairments in vision and hearing, cerebellar ataxia, muscular weakness, stiffness, seizures, and dysarthria cogitative decline. Many reports involve minors. Very few instances worldwide have been reported, with adult onset of vanishing white matter considered to account for 15% of cases. Clinical evaluation, MRI results, and confirmatory genetic testing are used to diagnose VWMD. - Source: PubMed
Publication date: 2025/01/04
Douden Bashar Kamal AliAbufara Yazan Mohammad AbdullahAldrabeeh Mahmood Fayez AliTell Naela Ramadan MohammadAbudaya Ismail - Pregnant individuals who smoke face increased health risks because smoking harms both the mother and their developing offspring. - Source: PubMed
Romero Villela Pamela NKelly Kristen MBalbona Jared VEhringer Marissa AKeller Matthew C - Vanishing white matter (VWM) disease is an autosomal recessive disorder caused by mutations in the gene EIF2B encoding the subunits 1-5 of eukaryotic initiation factor 2B. Although rare, with a reported prevalence of 1:80,000 (0.001%), it was considered as one of the most common leukodystrophies. However, the worldwide incidence and prevalence of this disease are not clear. In Bahrain, of 21 patients who were diagnosed with leukodystrophy, two patients were found to have VWM disease accounting for 9.5%. Vaccinations and infections were the trigger factors for this disease to manifest. Rapid neurological deterioration, loss of developmental milestones, and seizure disorders are the main presentations in both patients. Magnetic resonance imaging (MRI) showed the classical radiological changes of demyelination and leukodystrophy. Patient 1 had associated ulcerative colitis, a finding that was not reported before. Patient 1's condition progressed to a vegetative stage, while patient 2 passed away, reflecting the poor disease outcome. In patient 2, a novel homozygous missense mutation was found in the EIF2B3 gene (c.25G>A, p.Ala9Thr). In this report, we present in detail the prevalence of VWM disease among cases with leukodystrophy, patients' characteristics, clinical presentations, radiological findings, associated diseases, genetic results, and clinical outcomes in the main tertiary hospital in Bahrain between 1998 and 2024. Moreover, we conducted a thorough literature review on this rare condition. - Source: PubMed
Publication date: 2024/11/14
Alsahlawi ZahraIsa Hasan MAlresias SulaimanHasan Sayed MohamedMalalla Husain AEbrahim Ayman KAli Khadija