AARS
Description
The AARS gene, which encodes for the enzyme alanyl-tRNA synthetase, plays a pivotal role in protein synthesis. This enzyme attaches the amino acid alanine to its corresponding tRNA molecule, a crucial step in the translation process. This ensures that the correct amino acid is incorporated into the growing polypeptide chain, leading to the formation of functional proteins. Mutations in the AARS gene can disrupt this delicate process, potentially leading to a range of disorders.
Associated Diseases
- Charcot-Marie-Tooth disease type 2D (CMT2D)
- Proximal spinal muscular atrophy (SMA)
- Infantile-onset mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes (MELAS)
- Leigh syndrome
- Epilepsy
- Intellectual disability
Did you know?
AARS mutations have been linked to both dominant and recessive inheritance patterns, demonstrating the complexity of this gene‘s role in human health.
