MT-TL1
Lua error in Module:Infobox at line 235: malformed pattern (missing ']'). Mitochondrially encoded tRNA leucine 1 (UUA/G) also known as MT-TL1 is a transfer RNA which in humans is encoded by the mitochondrial MT-TL1 gene.[1]
Function
MT-TL1 is a small 75 nucleotide RNA (human mitochondrial map position 3230-3304) that transfers the amino acid leucine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
It is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).[2]
One common mutation is A3243G. This mutation has been theorized to be associated with several other mitochondrial diseases,[3] including diabetes mellitus and deafness.[4][5]
See also
References
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<references />, or <references group="..." />External links
- GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP
- GeneReviews/NCBI/NIH/UW entry on MELAS
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