GATC Chromosome 12
Glutamyl-tRNA amidotransferase subunit C
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What This Gene Does
Predicted to enable ATP binding activity and glutaminyl-tRNA synthase (glutamine-hydrolyzing) activity. Involved in glutaminyl-tRNAGln biosynthesis via transamidation and mitochondrial translation. Located in mitochondrion. Part of glutamyl-tRNA(Gln) amidotransferase complex. Implicated in combined oxidative phosphorylation deficiency 42. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Glutamyl-tRNA amidotransferase subunits
Locus Type
gene with protein product
Location
12q24.31
Ensembl
ENSG00000257218
Associated Conditions (3)
Cardiomyopathy
mitochondrial
Combined oxidative phosphorylation deficiency 42
Key Variants
All Variants (1)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1370579526 | Health Risk | Pathogenic | Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 42 |