EARS2 : glutamyl-tRNA synthetase 2, mitochondrial

Description

The EARS2 gene provides instructions for making an enzyme called alanyl-tRNA synthetase, a crucial component in protein synthesis. This enzyme attaches the amino acid alanine to its corresponding transfer RNA (tRNA) molecule, ensuring the correct building blocks are used for making proteins. EARS2 plays a vital role in ribosome biogenesis, the process of building ribosomes, the cellular machinery responsible for translating genetic information into proteins. Dysfunctional EARS2 can lead to a range of health complications.

Associated Diseases

• Combined oxidative phosphorylation deficiency 12
• Intellectual Disability
• Neurological Disorders
• Developmental Delays

Did you know?

Mutations in the EARS2 gene are often associated with a specific pattern of brain malformations, particularly affecting the cerebellum and pons.