MT-TT

MT-TT
識別號
別名	MT-TT；, TRNT, RF00005
外部ID	OMIM：590090 MGI：102473 GeneCards：MT-TT
直系同源
	4576
	17744
	ENSG00000210195
	ENSMUSG00000064371
	無資料
	無資料
	無資料
	無資料
	無資料
	無資料
	維基資料
檢視/編輯人類	檢視/編輯小鼠

MT-TT是位於粒線體DNA上的一個長66鹼基對（bp）的非編碼基因，編碼粒線體蘇胺酸轉運RNA^[3]^[4]。

突變[編輯]

MT-TT基因上的15950G>A突變與粒線體肌病、帕金森氏症等疾病相關^[5]。此外，MT-TT基因上的15923A>G突變可能與心臟病變相關^[6]^[7]。此外，15915G>A等突變可能造成細胞色素c功能失調造成聽覺喪失（英語：Hearing loss）、肌無力（英語：Muscle weakness）等病變^[8]。

參見[編輯]

參考資料[編輯]

^ Human PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ Mouse PubMed Reference:. National Center for Biotechnology Information, U.S. National Library of Medicine.
^ MT-TT mitochondrially encoded tRNA threonine [Homo sapiens (human)] - Gene - NCBI. www.ncbi.nlm.nih.gov （英語）.
^ 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.
^ 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.
^ 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.
^ Reference, Genetics Home. MT-TT gene. Genetics Home Reference. [2021-07-25]. （原始內容存檔於2020-09-28）（英語）.
^ 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] 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.

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

[pmid7219534-4] 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]. （原始內容存檔於2020-09-28）（英語）.

[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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