EEF1B2
EEF1B2
EEF1B2 is a gene that encodes a protein known as eukaryotic translation elongation factor 1 beta 2. This protein is a subunit of the eukaryotic translation elongation factor 1 complex, which plays a crucial role in protein synthesis in eukaryotic cells.
Function[edit | edit source]
The EEF1B2 protein is involved in the elongation phase of protein synthesis. It functions by delivering aminoacyl-tRNAs to the ribosome during translation, facilitating the addition of amino acids to the growing polypeptide chain.
Structure[edit | edit source]
The EEF1B2 gene is located on chromosome 2 in humans and consists of multiple exons that encode the protein. The protein itself is composed of several domains that are essential for its function in translation elongation.
Role in Disease[edit | edit source]
Mutations in the EEF1B2 gene have been associated with certain diseases, including neurodevelopmental disorders and cancer. Dysregulation of protein synthesis due to mutations in EEF1B2 can lead to abnormal cellular functions and disease states.
Interactions[edit | edit source]
The EEF1B2 protein interacts with other components of the translation machinery, such as eukaryotic translation elongation factor 1 alpha 1 (EEF1A1) and ribosomal proteins. These interactions are crucial for the efficient and accurate translation of mRNA into protein.
Clinical Significance[edit | edit source]
Understanding the role of EEF1B2 in protein synthesis and its interactions with other translation factors is important for developing targeted therapies for diseases associated with dysregulated translation.
See also[edit | edit source]
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Contributors: Prab R. Tumpati, MD