| 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]
Contents |
Function [link]
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 [link]
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 disease,[3] including diabetes mellitus and deafness.[4]
See also [link]
References [link]
- ^ Anderson S, Bankier AT, Barrell BG, de Bruijn MH, Coulson AR, Drouin J, Eperon IC, Nierlich DP, Roe BA, Sanger F, Schreier PH, Smith AJ, Staden R, Young IG (April 1981). "Sequence and organization of the human mitochondrial genome". Nature 290 (5806): 457–65. DOI:10.1038/290457a0. PMID 7219534.
- ^ Yasukawa T, Suzuki T, Ueda T, Ohta S, Watanabe K (February 2000). "Modification defect at anticodon wobble nucleotide of mitochondrial tRNAs(Leu)(UUR) with pathogenic mutations of mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes". J. Biol. Chem. 275 (6): 4251–7. DOI:10.1074/jbc.275.6.4251. PMID 10660592.
- ^ Finsterer J (2007). "Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation". Acta Neurol. Scand. 116 (1): 1–14. DOI:10.1111/j.1600-0404.2007.00836.x. PMID 17587249.
- ^ Reardon W, Ross RJ, Sweeney MG, et al. (1992). "Diabetes mellitus associated with a pathogenic point mutation in mitochondrial DNA". Lancet 340 (8832): 1376–9. DOI:10.1016/0140-6736(92)92560-3. PMID 1360090.
External links [link]
- GeneReviews/NCBI/NIH/UW entry on Mitochondrial DNA-Associated Leigh Syndrome and NARP
- GeneReviews/NCBI/NIH/UW entry on MELAS
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Transaction Language 1
Transaction Language 1 (TL1) is a widely used management protocol in telecommunications. It is a cross-vendor, cross-technology man-machine language, and is widely used to manage optical (SONET) and broadband access infrastructure in North America. TL1 is used in the input and output messages that pass between Operations Support Systems (OSSs) and Network Elements (NEs). Operations domains such as surveillance, memory administration, and access and testing define and use TL1 messages to accomplish specific functions between the OS and the NE. TL1 is defined in Telcordia Technologies (formerly Bellcore) Generic Requirements document GR-831-CORE.
History
TL1 was developed by Bellcore in 1984 as a standard man-machine language to manage network elements for the Regional Bell Operating Companies (RBOCs). It is based on Z.300 series man machine language standards. TL1 was designed as a standard protocol readable by machines as well as humans to replace the diverse ASCII based protocols used by different Network Element (NE) vendors. It is extensible to incorporate vendor specific commands.
