DARS2 : aspartyl-tRNA synthetase 2, mitochondrial

Description

DARS2 is a gene responsible for producing the enzyme aspartyl-tRNA synthetase (DARS2), a critical component of protein synthesis. DARS2 plays a crucial role in the translation process by attaching the amino acid aspartic acid to its corresponding transfer RNA (tRNA). This process is essential for the accurate production of proteins, which carry out a vast array of functions within the body. Mutations in the DARS2 gene can disrupt this process, leading to a range of genetic disorders.

Associated Diseases

• Leukoencephalopathy with vanishing white matter (VWM)
• Infantile epileptic encephalopathy
• Neuromuscular disorders

Did you know?

DARS2 mutations are particularly prevalent in individuals with Ashkenazi Jewish ancestry.