MT-TL1

MT-TL1

protein
Name=mitochondrially encoded tRNA leucine 1 (UUA/G)
caption=


width=
HGNCid=7490
Symbol=MT-TL1
AltSymbols=MTTL1
EntrezGene=4567
OMIM=590050
RefSeq=
UniProt=
PDB=
ECnumber=
Chromosome=MT
Arm=
Band=
LocusSupplementaryData=

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,cite journal |author=Finsterer J |title=Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation |journal=Acta Neurol. Scand. |volume=116 |issue=1 |pages=1–14 |year=2007 |pmid=17587249 |doi=10.1111/j.1600-0404.2007.00836.x] including diabetes mellitus and deafness.cite journal |author=Reardon W, Ross RJ, Sweeney MG, "et al" |title=Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA |journal=Lancet |volume=340 |issue=8832 |pages=1376–9 |year=1992 |pmid=1360090 |doi=]

ee also

* Mitochondrial DNA

References


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