YARS2
Description
The YARS2 gene provides instructions for making an enzyme called tyrosyl-tRNA synthetase 2 (YARS2). This enzyme plays a crucial role in protein synthesis by attaching the amino acid tyrosine to its corresponding transfer RNA (tRNA). This process, known as tRNA charging, is essential for the accurate translation of genetic code into functional proteins. Mutations in the YARS2 gene can disrupt this delicate process, leading to various health complications.
Associated Diseases
- Charcot-Marie-Tooth disease type 2D (CMT2D): A neurological disorder affecting the peripheral nerves, leading to muscle weakness, atrophy, and sensory loss.
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL): A rare and severe neurological disorder characterized by progressive white matter damage in the brain, brainstem, and spinal cord.
- Mitochondrial myopathy: A group of disorders affecting the mitochondria, the powerhouses of cells, leading to muscle weakness and fatigue.
Did you know?
YARS2 is a mitochondrial protein, meaning it functions within the mitochondria, the energy-producing organelles of cells.
