MT-TF Chromosome MT
Mitochondrially encoded tRNA-Phe (UUU/C)
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What This Gene Does
Predicted to enable triplet codon-amino acid adaptor activity. Predicted to be involved in translation. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
Mitochondrially encoded transfer RNAs
Locus Type
RNA, transfer
Location
mitochondria
Ensembl
ENSG00000210049
Associated Conditions (10)
MELAS syndrome
Hypokalemia
Hypomagnesemia
Nephropathy
chronic tubulointerstitial
Mitochondrial disease
Epilepsy
mitochondrial
Interstitial nephritis
Primary mitochondrial disorders
Key Variants
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1603218449 | Health Risk | Conflicting classifications of pathogenicity | MELAS syndrome, MELAS syndrome |
| RS2124590812 | Health Risk | Likely pathogenic | Hypokalemia, Hypomagnesemia, Nephropathy |
| RS387906420 | Health Risk | Likely pathogenic | Epilepsy, mitochondrial, MELAS syndrome |