AARSD1
Description
The AARS1 gene provides instructions for making a specific type of enzyme called arginyl-tRNA synthetase. This enzyme is essential for protein synthesis, a fundamental process in all living organisms. It plays a crucial role in translating genetic information encoded in DNA into functional proteins by attaching the amino acid arginine to its corresponding transfer RNA (tRNA). This process is vital for building proteins that carry out various functions within cells, including structural support, enzymatic activity, and signaling.
Associated Diseases
- Charcot-Marie-Tooth disease type 2D (CMT2D): This is a rare, inherited neurological disorder that affects the peripheral nerves, causing muscle weakness, atrophy, and sensory loss.
- Distal hereditary motor neuropathy type V (dHMN-V): A rare inherited neurological disorder that primarily affects the motor neurons in the peripheral nervous system, leading to muscle weakness and atrophy in the hands and feet.
- Infantile-onset ascending hereditary neuropathy (IAHND): A rare, severe, and progressive neurological disorder that causes muscle weakness and atrophy, starting in the feet and legs and gradually affecting the entire body.
- Spinocerebellar ataxia (SCA): A group of neurodegenerative disorders that affect the cerebellum, a part of the brain responsible for coordinating movement and balance, leading to problems with walking, balance, and coordination.
Did you know?
Mutations in the AARS1 gene can lead to a range of neurological disorders, highlighting the critical role of protein synthesis in maintaining proper nerve function.
