MT-TL1

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mitochondrially encoded tRNA leucine 1 (UUA/G)
Identifiers
Symbol MT-TL1
Alt. symbols MTTL1
Entrez 4567
HUGO 7490
OMIM 590050
RefSeq NC_001807
Other data
Locus Chr. MT [1]

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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External links


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