MT-TL1
| mitochondrially encoded tRNA leucine 1 (UUA/G) | |
|---|---|
| Identifiers | |
| Symbol | MT-TL1 |
| Alt. symbols | MTTL1 |
| Entrez | 4567 |
| HUGO | 7490 |
| OMIM | 590050 |
| Other data | |
| Locus | Chr. mitochondria [1] |
MT-TL1 is a mitochondrial gene. It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes.
One common mutation is A3,243G. This mutation has been theorized to be associated with several other mitochondrial disease,[1] including diabetes mellitus and deafness.[2]
See also
References
- ↑ Finsterer J (2007). "Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation". Acta Neurol. Scand. 116 (1): 1–14. doi:10.1111/j.1600-0404.2007.00836.x. PMID 17587249.
- ↑ Reardon W, Ross RJ, Sweeney MG; et al. (1992). "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA". Lancet. 340 (8832): 1376–9. PMID 1360090.
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