MT-TL1 Gene Summary [Human]
Implicated in cardiomyopathy. [provided by Alliance of Genome Resources, Apr 2022]
Details
| Type | Mitochondrial Transfer RNA |
| Official Symbol | MT-TL1 |
| Official Name | mitochondrially encoded tRNA-Leu (UUA/G) 1 [Source:HGNC Symbol;Acc:HGNC:7490] |
| Ensembl ID | ENSG00000209082 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded tRNA-Leu (UUA/G) 1 |
| Synonyms | mitochondrial tRNA Leu 1, mitochondrial tRNA leucine 1, mt-Tl1-201, tRNA-Leu, tRNA Leu 1, tRNA Leu 1 (UUA/G), tRNA Leu 1 (UUR), tRNA leucine 1, tRNA Leu (UUA/G), tRNA Leu (UUR), TRNL1 |
| Species | Human, Homo sapiens |
Protein Domains
A protein domain is a distinct structural or functional region within a protein that can evolve, function, and exist independently of the rest of the protein chain. These domains in human MT-TL1 often fold into stable, three-dimensional structures and are associated with specific biological functions, such as binding to DNA, other proteins, or small molecules.
- triplet codon-amino acid adaptor
Top Findings
The most significant associations for this gene, including commonly observed domains, pathway involvement, and functional highlights based on current data.
disease
- mitochondrial cardiomyopathy
- MELAS syndrome
- mitochondrial disorder
- age-related macular degeneration type 2
- myoclonus epilepsy and ragged red fibers syndrome
- progressive external ophthalmoplegia, proximal myopathy and sudden death
- maternally transmitted noninsulin-dependent diabetes mellitus
- sudden infant death syndrome
- myelodysplastic syndrome
- cyclical vomiting syndrome
regulated by
- bardoxolone methyl
- MT-TM
role in cell
- production in
- transmembrane potential
Subcellular Expression
Locations within the cell where the protein is known or predicted to be active, providing insight into its function and cellular context.
- Cytoplasm
- Mitochondria