Description

The EARS2 gene encodes an enzyme called mitochondrial glutamyl-tRNA synthetase. This enzyme is important in proteins synthesis in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in cytoplasm, some proteins are synthesized in the mitochondria. Mutations in this gene have been associated with combined oxidative phosphorylation deficiency 12 (COXPD12) (Talim et al., 2013).

External Information

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