Symbol MT-TL1 Entrez 4567 OMIM 590050 | Alt. symbols MTTL1 HUGO 7490 RefSeq NC_001807 | |
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.
Contents
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).
One common mutation is A3243G. This mutation has been theorized to be associated with several other mitochondrial diseases, including diabetes mellitus and deafness.
References
MT-TL1 Wikipedia(Text) CC BY-SA