GATC
Function
Allows the formation of correctly charged Gln-tRNA(Gln) through the transamidation of misacylated Glu-tRNA(Gln) in the mitochondria. The reaction takes place in the presence of glutamine and ATP through an activated gamma-phospho-Glu-tRNA(Gln).
Involvement in disease
Combined oxidative phosphorylation deficiency 42
COXPD42
An autosomal recessive mitochondrial disorder characterized by onset in the first months of life, cardiomyopathy, respiratory insufficiency, lactic acidosis, anemia, and variable impairment of mitochondrial respiratory complexes I, III, and IV. Death occurs in infancy.
None
The disease is caused by variants affecting the gene represented in this entry.
Sequence Similarities
Belongs to the GatC family.
Cellular localization
- Mitochondrion
Alternative names
15E1.2, GATC, Glu-AdT subunit C, Protein 15E1.2