MT-TH
| mitochondrially encoded tRNA histidine | |
|---|---|
| Identifiers | |
| Symbol | MT-TH |
| Alt. symbols | MTTH |
| Entrez | 4564 |
| HUGO | 7487 |
| OMIM | 590040 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT |
Mitochondrially encoded tRNA histidine, also known as MT-TH, is a transfer RNA which, in humans, is encoded by the mitochondrial MT-TH gene.[1]
Function
MT-TH is a small 69 nucleotide RNA (human mitochondrial map position 12138-12206) that transfers the amino acid histidine to a growing polypeptide at the ribosomal site of protein synthesis during translation.[2]
Clinical significance
MT-TH is associated with mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS).[3][4]
It has also been associated with MERRF syndrome.[3]
References
- ↑ 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.
- ↑ Blakely, Emma L.; Yarham, John W.; Alston, Charlotte L.; Craig, Kate; Poulton, Joanna; Brierley, Charlotte; Park, Soo-Mi; Dean, Andrew; Xuereb, John H.; Anderson, Kirstie N.; Compston, Alistair; Allen, Chris; Sharif, Saba; Enevoldson, Peter; Wilson, Martin; Hammans, Simon R.; Turnbull, Douglass M.; McFarland, Robert; Taylor, Robert W. (2013). "Pathogenic Mitochondrial tRNA Point Mutations: Nine Novel Mutations Affirm Their Importance as a Cause of Mitochondrial Disease". Human Mutation. 34 (9): 1260–1268. doi:10.1002/humu.22358. ISSN 1059-7794.
- 1 2 Melone MA, Tessa A, Petrini S, Lus G, Sampaolo S, di Fede G, Santorelli FM, Cotrufo R (February 2004). "Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype". Arch. Neurol. 61 (2): 269–72. doi:10.1001/archneur.61.2.269. PMID 14967777.
- ↑ Taylor RW, Schaefer AM, McDonnell MT, Petty RK, Thomas AM, Blakely EL, Hayes CM, McFarland R, Turnbull DM (April 2004). "Catastrophic presentation of mitochondrial disease due to a mutation in the tRNA(His) gene". Neurology. 62 (8): 1420–3. doi:10.1212/01.wnl.0000120667.77372.46. PMID 15111688.
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