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EEF1A2 encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. Zusätzlich bieten wir Ihnen EEF1A2 Antikörper (73) und EEF1A2 Proteine (7) und viele weitere Produktgruppen zu diesem Protein an.
We report a pair of siblings carrying a homozygous missense mutation p.P333L in EEF1A2 who exhibited global developmental delay, failure to thrive, dilated cardiomyopathy and epilepsy, ultimately leading to death in early childhood. EEF1A2 appears to be critical for normal heart function in humans, and its deficiency results in clinical abnormalities in neurologic function as well as in skeletal and cardiac muscle defects
eEF1A2 is highly expressed in hepatocellular carcinoma. Its silencing significantly decreases HCC (zeige FAM126A ELISA Kits) tumorigenesis, likely by inhibiting PI3K (zeige PIK3CA ELISA Kits)/Akt (zeige AKT1 ELISA Kits)/NF-kappaB (zeige NFKB1 ELISA Kits) signaling.
Differential gene expression analysis demonstrated significant upregulation of PDZK1IP1 (zeige PDZK1IP1 ELISA Kits), EEF1A2 and RPL41 (zeige RPL41 ELISA Kits) (ENSG00000279483) genes in the intrahepatic cholangiocarcinoma samples when compared with the matched paratumor samples.
In both cases, a de novo recurrent heterozygous mutation in EEF1A2 [c.364G>A (p.E122K)] was identified by whole-exome sequencing. CONCLUSION: This report provides clinical data on epileptic encephalopathy in patients with EEF1A2 mutation. Continuous high-voltage delta activity seen over both parietal areas may be a unique manifestation of EEF1A2 mutation.
Our results provide novel information on the intracellular distribution and interaction of eEF1A (zeige EEF1A1 ELISA Kits) isoforms.
By directly targeting eEF1A2.
Both eEF1A1 (zeige EEF1A1 ELISA Kits) and eEF1A2 colocalise with all eEF1B (zeige EEF1B2 ELISA Kits) subunits, in such close proximity that they are highly likely to be in a complex.
De novo EEF1A2 mutations in patients with characteristic facial features, intellectual disability, autistic behaviors and epilepsy.
Finally, a strong association between the expression of EEF1A2, phosphorylated AKT (zeige AKT1 ELISA Kits) and MDM4 (zeige MDM4 ELISA Kits) was observed in human HCC (zeige FAM126A ELISA Kits) samples. Strong activation of the EEF1A2/PI3K (zeige PIK3CA ELISA Kits)/AKT (zeige AKT1 ELISA Kits)/mTOR (zeige FRAP1 ELISA Kits)/MDM4 (zeige MDM4 ELISA Kits) signaling pathway was observed in HCC (zeige FAM126A ELISA Kits) patients
Overexpression of eEF1A2 was correlated with worse outcomes in gastric cancer patients, suggesting its critical roles in the carcinogenesis of gastric cancer.
This provides the first in vivo confirmation that eEF1A2 plays an important role in translation.
Heterozygous mutant mice showed no deficit in neuromuscular function or signs of spinal cord pathology, in spite of the low levels of eEF1A2
In-depth analysis using site-directed mutagenesis revealed that PKCbetaI could phosphorylate Ser (zeige SIGLEC1 ELISA Kits)(3) of the eEF1A2 isoform and that the association between eEF1A2 and PKCbetaI was dependent on the phosphorylation status of eEF1A2
EEF1A2 may play contribute to the induction or progression of some plasmacytomas and a small percentage of multiple myeloma.
these results suggest an important role for eEF1A2 in driving cap-independent translation of utrophin (zeige UTRN ELISA Kits) A in skeletal muscle.
expression of eEF1A-2/S1 protein is activated upon myogenic differentiation
This is a putative oncogene (zeige RAB1A ELISA Kits) in ovarian cancer.
Data suggest that spontaneous failure of eEF1A2 expression in the wasted mutant first triggers gliosis in spinal cord and retraction of motor nerve terminals in muscle, and then motor neuron pathology and death.
eEF1A-2 interacts with Prdx-I to functionally provide cells with extraordinary resistance to oxidative stress-induced (zeige SQSTM1 ELISA Kits) cell death[eEF1A-2 and Prdx-I]
The above findings suggest that an increase in free-form eEF1A under alkaline conditions plays a critical role in alkalinization-induced cell growth.
the interaction of eEF1A with two known partners - calmodulin and actin
eEF1A2 crystals obtained using ammonium sulfate as precipitant diffracted to 2.5 A resolution and belonged to space group P6(1)22 or P6(3)22 (unit-cell parameters a = b = 135.4, c = 304.6 A).
This gene encodes an isoform of the alpha subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This isoform (alpha 2) is expressed in brain, heart and skeletal muscle, and the other isoform (alpha 1) is expressed in brain, placenta, lung, liver, kidney, and pancreas. This gene may be critical in the development of ovarian cancer. Alternatively spliced transcript variants encoding different isoforms have been found for this gene.
, elongation factor 1-alpha 2
, elongation factor-1 alpha
, eukaryotic elongation factor 1 A-2
, statin S1
, elongation factor 1-alpha 1
, eukaryotic translation elongation factor 1 alpha 2
, Statin-like protein
, elongation factor 1 A-2
, elongation factor 1 A2
, LOW QUALITY PROTEIN: elongation factor 1-alpha 2