| Modification Notes |
The initiation of protein synthesis in eukaryotic cells is regulated by interactions between protein initiation factors and RNA molecules. IF2, also known as MTIF2 (mitochondrial translational initiation factor 2), is a 727 amino acid protein that localizes to mitochondria and is expressed ubiquitously, with highest expression in skeletal muscle. Functioning as a monomer, IF2 exists as an essential component of protein synthesis, specifically promoting the GTP-dependent binding of initiator tRNA to the ribosome and possibly playing a role in the formation of the 70S ribosomal complex. The gene encoding IF2 maps to human chromosome 2, which houses over 1,400 genes and comprises nearly 8% of the human genome. Harlequin icthyosis, a rare and morbid skin deformity, is associated with mutations in the ABCA12 gene, while the lipid metabolic disorder sitosterolemia is associated with defects in the ABCG5 and ABCG8 genes. Additionally, an extremely rare recessive genetic disorder, Alström syndrome, is caused by mutations in the ALMS1 gene, which maps to chromosome 2. |