AARS1 alanyl-tRNA synthetase 1
AARS1: An Essential Gene Implicated in Multiple Diseases
Description
AARS1 (alanyl-tRNA synthetase 1) is an essential gene that encodes a key enzyme involved in protein synthesis. It specifically attaches the amino acid alanine to its corresponding transfer RNA (tRNA), enabling the tRNA to carry alanine to the ribosome during protein translation. AARS1 is highly conserved across all organisms, highlighting its fundamental role in cellular function.
Associated Diseases
Mutations in the AARS1 gene have been linked to several genetic disorders, including:
- Charcot-Marie-Tooth disease type 2N: A progressive neurological condition characterized by weakness and muscle atrophy in the hands, feet, and legs.
- MICRO syndrome: A rare genetic disorder involving intellectual disability, microcephaly (small head size), and characteristic facial features.
- Pontocerebellar hypoplasia: A brain malformation that leads to developmental delays, movement disorders, and intellectual disability.
- Lowe syndrome: A rare X-linked disorder characterized by eye cataracts, intellectual disability, and renal dysfunction.
Did you Know ?
Approximately 1 in 100,000 individuals is affected by Charcot-Marie-Tooth disease type 2N, one of the most common disorders associated with AARS1 mutations.
