MT-TT

MT-TT
识别号
别名	MT-TT；, TRNT, RF00005
外部ID	OMIM：590090 MGI：102473 GeneCards：MT-TT
直系同源
	4576
	17744
	ENSG00000210195
	ENSMUSG00000064371
	无数据
	无数据
	无数据
	无数据
	无数据
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	维基数据
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MT-TT是位于线粒体DNA上的一个长66碱基对（bp）的非编码基因，编码线粒体苏氨酸转运RNA^[3]^[4]。

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突变

MT-TT基因上的15950G>A突变与线粒体肌病、帕金森氏症等疾病相关^[5]。此外，MT-TT基因上的15923A>G突变可能与心脏病变相关^[6]^[7]。此外，15915G>A等突变可能造成细胞色素c功能失调造成听觉丧失（英语：Hearing loss）、肌无力（英语：Muscle weakness）等病变^[8]。

参见

参考资料

[1]
Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
[2]
Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
[3]
MT-TT mitochondrially encoded tRNA threonine [Homo sapiens (human)] - Gene - NCBI. www.ncbi.nlm.nih.gov （英语）.
[4]
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. Sequence and organization of the human mitochondrial genome. Nature. April 1981, 290 (5806): 457–65. PMID 7219534. doi:10.1038/290457a0.
[5]
Grasbon-Frodl EM, Kösel S, Sprinzl M, von Eitzen U, Mehraein P, Graeber MB. Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. Neurogenetics. April 1999, 2 (2): 121–7. PMID 10369889. doi:10.1007/s100480050063.
[6]
Yoon KL, Aprille JR, Ernst SG. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. Biochemical and Biophysical Research Communications. May 1991, 176 (3): 1112–5. PMID 1645537. doi:10.1016/0006-291X(91)90399-R.
[7]
Reference, Genetics Home. MT-TT gene. Genetics Home Reference. [2021-07-25]. （原始内容存档于2020-09-28）（英语）.
[8]
Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y. A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. Biochemical and Biophysical Research Communications. August 1996, 225 (1): 180–5. PMID 8769114. doi:10.1006/bbrc.1996.1150.

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[1] [1]
Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[2] [2]
Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.

[entrez-3] [3]
MT-TT mitochondrially encoded tRNA threonine [Homo sapiens (human)] - Gene - NCBI. www.ncbi.nlm.nih.gov （英语）.

[pmid7219534-4] [4]
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. Sequence and organization of the human mitochondrial genome. Nature. April 1981, 290 (5806): 457–65. PMID 7219534. doi:10.1038/290457a0.

[5] [5]
Grasbon-Frodl EM, Kösel S, Sprinzl M, von Eitzen U, Mehraein P, Graeber MB. Two novel point mutations of mitochondrial tRNA genes in histologically confirmed Parkinson disease. Neurogenetics. April 1999, 2 (2): 121–7. PMID 10369889. doi:10.1007/s100480050063.

[6] [6]
Yoon KL, Aprille JR, Ernst SG. Mitochondrial tRNA(thr) mutation in fatal infantile respiratory enzyme deficiency. Biochemical and Biophysical Research Communications. May 1991, 176 (3): 1112–5. PMID 1645537. doi:10.1016/0006-291X(91)90399-R.

[7] [7]
Reference, Genetics Home. MT-TT gene. Genetics Home Reference. [2021-07-25]. （原始内容存档于2020-09-28）（英语）.

[8] [8]
Nishino I, Seki A, Maegaki Y, Takeshita K, Horai S, Nonaka I, Goto Y. A novel mutation in the mitochondrial tRNA(Thr) gene associated with a mitochondrial encephalomyopathy. Biochemical and Biophysical Research Communications. August 1996, 225 (1): 180–5. PMID 8769114. doi:10.1006/bbrc.1996.1150.

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