MT-TK
| mitochondrially encoded tRNA lysine | |
|---|---|
| Identifiers | |
| Symbol | MT-TK |
| Alt. symbols | MERRF, MTTK |
| NCBI gene | 4566 |
| HGNC | 7489 |
| RefSeq | NC_001807 |
| Other data | |
| Locus | Chr. MT [1] |
Mitochondrially encoded tRNA lysine also known as MT-TK is a transfer RNA which in humans is encoded by the mitochondrial MT-TK gene.[1]
Function
MT-TK is a small 70 nucleotide RNA (human mitochondrial map position 8295-8364) that transfers the amino acid lysine to a growing polypeptide chain at the ribosome site of protein synthesis during translation.
Clinical significance
Mutations in the MT-TK gene are associated with myoclonic epilepsy and ragged-red fiber disease (MERRF).[2][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.
- ^ Shoffner JM, Lott MT, Lezza AM, Seibel P, Ballinger SW, Wallace DC (June 1990). "Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation". Cell. 61 (6): 931–7. doi:10.1016/0092-8674(90)90059-N. PMID 2112427.
- ^ Yoneda M, Tanno Y, Horai S, Ozawa T, Miyatake T, Tsuji S (August 1990). "A common mitochondrial DNA mutation in the t-RNA(Lys) of patients with myoclonus epilepsy associated with ragged-red fibers". Biochem. Int. 21 (5): 789–96. PMID 2124116.
External links
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