EEF1A2
Description
The EEF1A2 (eukaryotic translation elongation factor 1 alpha 2) is a protein-coding gene located on chromosome 20.
Elongation factor 1-alpha 2 is a protein encoded by the EEF1A2 gene in humans. It's an isoform of the alpha subunit of the elongation factor-1 complex, essential for delivering aminoacyl tRNAs to the ribosome during protein synthesis. This specific isoform (alpha 2) is predominantly found in brain, heart, and skeletal muscle, while another isoform (alpha 1) is expressed in a broader range of tissues including brain, placenta, lung, liver, kidney, and pancreas. Research suggests that EEF1A2 might play a role in the development of ovarian cancer. The expression of EEF1A2 is regulated by miRNAs, specifically miRNA-663 and miRNA-744.
EEF1A2 is also known as DEE33, EEF1AL, EF-1-alpha-2, EF1A, EIEE33, HS1, MRD38, STN, STNL.
Associated Diseases
- Non-specific early-onset epileptic encephalopathy
- Intellectual developmental disorder, autosomal dominant 38
- Developmental and epileptic encephalopathy 33
