MT-TN Chromosome MT
Mitochondrially encoded tRNA-Asn (AAU/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
ENSG00000210135
Associated Conditions (9)
MITOCHONDRIAL COMPLEX I DEFICIENCY
MITOCHONDRIAL TYPE 2
Mitochondrial complex IV deficiency
nuclear type 1
MELAS syndrome
Mitochondrial disease
Ophthalmoplegia
isolated
Primary mitochondrial disorders
Key Variants
RS199476132
Likely pathogenic
MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2, Mitochondrial complex IV deficiency
Health Risk
RS2521956863
Likely pathogenic
Mitochondrial disease, Mitochondrial disease
Health Risk
RS199476130
Pathogenic
Ophthalmoplegia, isolated, Mitochondrial complex IV deficiency
Health Risk
All Variants (3)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199476132 | Health Risk | Likely pathogenic | MITOCHONDRIAL COMPLEX I DEFICIENCY, MITOCHONDRIAL TYPE 2, Mitochondrial complex IV deficiency |
| RS2521956863 | Health Risk | Likely pathogenic | Mitochondrial disease, Mitochondrial disease |
| RS199476130 | Health Risk | Pathogenic | Ophthalmoplegia, isolated, Mitochondrial complex IV deficiency |