MT-TL1

MT-TL1

mitochondrially encoded tRNA leucine 1 (UUA/G)
Identifiers
Symbol MT-TL1
Alt. symbols MTTL1
Entrez HUGO OMIM RefSeq Locus [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

External links

  • GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP
  • GeneReviews/NCBI/NIH/UW entry on MELAS