The EARS2 gene provides instructions for making an enzyme called mitochondrial glutamyl-tRNA synthetase. This enzyme is important in the production (synthesis) of proteins in cellular structures called mitochondria, the energy-producing centers in cells. While most protein synthesis occurs in the fluid surrounding the cell nucleus (cytoplasm), some proteins are synthesized in the mitochondria.
During protein synthesis, in either the mitochondria or the cytoplasm, a type of RNA called transfer RNA (tRNA) helps assemble protein building blocks called amino acids into a chain that forms the protein. Each tRNA carries a specific amino acid to the growing chain. Enzymes called aminoacyl-tRNA synthetases, including mitochondrial glutamyl-tRNA synthetase, attach a particular amino acid to a specific tRNA. Mitochondrial glutamyl-tRNA synthetase attaches the amino acid glutamate to the correct tRNA, which helps ensure that glutamate is added at the proper place in the mitochondrial protein.
Other Names
COXPD12; gluRS; glutamate tRNA ligase 2, mitochondrial; glutamate–tRNA ligase; KIAA1970; MSE1
Related Genetics Topics
- Leigh syndrome — MedlinePlus Genetics
- Leukoencephalopathy with thalamus and brainstem involvement and high lactate — MedlinePlus Genetics
Identifiers
- NCBI Gene: 124454
- OMIM: 612799
Source: MedlinePlus Genetics, U.S. National Library of Medicine.
