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MT-TT

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MT-TT
識別號
別名MT-TT;, TRNT, RF00005
外部IDOMIM590090 MGI102473 GeneCardsMT-TT
直系同源
物種人類小鼠
Entrez
Ensembl
UniProt
mRNA​序列

無數據

無數據

蛋白序列

無數據

無數據

基因位置​(UCSC)無數據無數據
PubMed​查找[1][2]
維基數據
檢視/編輯人類檢視/編輯小鼠

MT-TT是位於線粒體DNA上的一個長66鹼基對(bp)的非編碼基因,編碼線粒體蘇氨酸轉運RNA[3][4]

突變

MT-TT基因上的15950G>A突變與線粒體肌病、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

參考資料

  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 (英語). 
  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.