GATB Chromosome 4
Glutamyl-tRNA amidotransferase subunit B
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What This Gene Does
Contributes to 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 41. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Glutamyl-tRNA amidotransferase subunits
Locus Type
gene with protein product
Location
4q31.3
Ensembl
ENSG00000059691
Associated Conditions (3)
Cardiomyopathy
mitochondrial
Combined oxidative phosphorylation deficiency 41
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS201205798 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS376766195 | Health Risk | Pathogenic | Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 41 |
| RS565910322 | Health Risk | Pathogenic | Cardiomyopathy, mitochondrial, Combined oxidative phosphorylation deficiency 41 |