Glutamyl-tRNA(Gln) amidotransferase subunit C, mitochondrial (or Glu-AdT subunit C) is a protein that in humans is encoded by the GATC gene. The gene is also known as 15E1.2 and encodes part of a Glu-tRNA(Gln) amidotransferase enzyme, which converts (mischarged) glutamyl-tRNAGln to glutaminyl-tRNAGln as part of protein synthesis in the mitochondria.
Medical significance Like with subunit A, mutations in GATC are associated with mitochondrial disease. This recessive disorder is called combined oxidative phosphorylation deficiency-42 (COXPD42), and symptoms include cardiovascular dysfunction, anemia, and early death.
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