GPAA1
Description
The GPAA1 gene, also known as the Glycyl-tRNA Synthetase (GlyRS) gene, plays a crucial role in protein synthesis. It encodes an enzyme responsible for attaching the amino acid glycine to its corresponding transfer RNA (tRNA), a process essential for accurate protein formation. GPAA1 ensures the fidelity of protein translation by preventing the incorporation of incorrect amino acids, thereby maintaining cellular homeostasis. This gene is highly conserved across species, highlighting its fundamental importance in cellular function.
Associated Diseases
- Charcot-Marie-Tooth disease type 2D (CMT2D): This rare, inherited neurological disorder is characterized by progressive muscle weakness and atrophy, primarily affecting the legs and feet. Mutations in GPAA1 are linked to CMT2D.
- Amyotrophic Lateral Sclerosis (ALS): Some studies suggest a possible link between GPAA1 variants and the development of ALS, a neurodegenerative disease affecting motor neurons.
- Spinal Muscular Atrophy (SMA): While not directly associated with GPAA1 mutations, the gene‘s role in protein synthesis makes it a potential factor in the complex pathogenesis of SMA, a genetic disorder causing muscle weakness and atrophy.
- Other neurodevelopmental disorders: Due to GPAA1‘s involvement in protein synthesis, it is being investigated for potential roles in other neurodevelopmental disorders with unclear genetic origins.
Did you know?
GPAA1 is a highly conserved gene, suggesting its fundamental importance in maintaining cellular function across species.
