YARS1
Description
The YARS1 gene encodes for the enzyme tyrosyl-tRNA synthetase (YARS1), a critical component of the cellular machinery responsible for protein synthesis. This enzyme attaches the amino acid tyrosine to its corresponding transfer RNA (tRNA), ensuring the accurate translation of genetic code into proteins. YARS1‘s role in protein synthesis is vital for cell growth, development, and overall cellular function. Mutations in the YARS1 gene can disrupt this process, leading to a range of genetic disorders.
Associated Diseases
- Charcot-Marie-Tooth disease type 2D (CMT2D)
- Proximal spinal muscular atrophy type 1 (SMA1)
- Pontocerebellar hypoplasia type 1B (PCH1B)
- Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation (LBSL)
- Infantile-onset epileptic encephalopathy with suppression-burst pattern (EE-SB)
Did you know?
YARS1 is one of the 20 aminoacyl-tRNA synthetases, each responsible for attaching a specific amino acid to its corresponding tRNA molecule.
