KARS (gene)
KARS, also known as Lysyl-tRNA synthetase, cytoplasmic, is a gene that encodes a protein responsible for catalyzing the attachment of lysine to its corresponding tRNA molecule (tRNALys). This is a crucial step in protein synthesis, ensuring that lysine is incorporated into the growing polypeptide chain during translation.
The KARS gene is located on a specific chromosome and its expression is essential for cellular function. Mutations in KARS have been linked to various diseases, often affecting neurological development and function. These mutations can disrupt the normal activity of the lysyl-tRNA synthetase enzyme, leading to errors in protein translation and subsequent cellular dysfunction.
Further research into the KARS gene is ongoing to fully understand its role in human health and disease. Understanding the mechanisms by which KARS mutations cause disease may lead to the development of targeted therapies.