EEF1B2
Description
The EEF1B2 (eukaryotic translation elongation factor 1 beta 2) is a protein-coding gene located on chromosome 2.
EEF1B2 is a gene that encodes for a protein known as elongation factor 1-beta. This protein plays a critical role in protein synthesis, specifically the process of transferring aminoacylated tRNAs to the ribosome. It acts as a guanine nucleotide exchange factor, which is essential for this transfer process.
EEF1B2 (EF-1-beta) along with EF-1-delta facilitate the replacement of GDP bound to EF-1-alpha with GTP.
EEF1B2 is also known as EEF1B, EEF1B1, EF1B.
Associated Diseases
- autosomal recessive non-syndromic intellectual disability
- endometrial cancer
- schizophrenia 15
- Phelan-McDermid syndrome
