Details
| Type | Mitochondrial Transfer RNA |
| Official Symbol | MT-TV |
| Official Name | mitochondrially encoded tRNA-Val (GUN) [Source:HGNC Symbol;Acc:HGNC:7500] |
| Ensembl ID | ENSG00000210077 |
| Bio databases IDs | |
| Aliases | mitochondrially encoded tRNA-Val (GUN) |
| Synonyms | ENSMUSG00000064336, mt-Tv-201, tRNA-Val, tRNA valine, TRNV |
| 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-TV 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 disorder
- ataxia, progressive seizures, mental deterioration and hearing loss
- mild cognitive impairment
- MELAS syndrome
- Leigh syndrome
- mitochondrial form axonal Charcot-Marie-Tooth disease type 1
regulated by
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