mitochondrially encoded tRNA serine 1 (UCN)
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El MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins. The MT-TS1 gene provides instructions for a specific form of tRNA that is designated as tRNASer(UCN). During protein assembly, this molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations in the growing protein.
Normal function
El MT-TS1 gene provides instructions for making a particular type of RNA, a molecule that is a chemical cousin of DNA. This type of RNA, called transfer RNA (tRNA), helps assemble protein building blocks known as amino acids into full-length, functioning proteins. The MT-TS1 gene provides instructions for a specific form of tRNA that is designated as tRNASer(UCN). During protein assembly, this molecule attaches to a particular amino acid, serine (Ser), and inserts it into the appropriate locations in the growing protein.
The tRNASer(UCN) molecule is present in cellular structures called mitochondria. These structures convert energy from food into a form that cells can use. Through a process called oxidative phosphorylation, mitochondria use oxygen, simple sugars, and fatty acids to create adenosine triphosphate (ATP), the cell's main energy source. The tRNASer(UCN) molecule is involved in the assembly of proteins that carry out oxidative phosphorylation.
Conditions referring to this gene or chromosome
Otros nombres
MTTS1
tRNA serine 1 (UCN)
TRNS1 tRNA
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Lecturas adicionales y referencias
- mitochondrially encoded tRNA serine 1 (UCN); MedlinePlus, National Library of Medicine.
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- Finsterer J, Harbo HF, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, De Jonghe P, Lossos A, Lynch T, Mariotti C, Schols L, Spinazzola A, Szolnoki Z, Tabrizi SJ, Tallaksen CM, Zeviani M, Burgunder JM, Gasser T; European Federation of Neurological Sciences. EFNS guidelines on the molecular diagnosis of mitochondrial disorders. Eur J Neurol. 2009 Dec;16(12):1255-64. doi: 10.1111/j.1468-1331.2009.02811.x.
- Fischel-Ghodsian N, Kopke RD, Ge X. Mitochondrial dysfunction in hearing loss. Mitochondrion. 2004 Sep;4(5-6):675-94. doi: 10.1016/j.mito.2004.07.040. Epub 2004 Nov 6.
- Grafakou O, Hol FA, Otfried Schwab K, Siers MH, ter Laak H, Trijbels F, Ensenauer R, Boelen C, Smeitink J. Exercise intolerance, muscle pain and lactic acidaemia associated with a 7497G>A mutation in the tRNASer(UCN) gene. J Inherit Metab Dis. 2003;26(6):593-600. doi: 10.1023/a:1025960300710.
- Jaksch M, Klopstock T, Kurlemann G, Dorner M, Hofmann S, Kleinle S, Hegemann S, Weissert M, Muller-Hocker J, Pongratz D, Gerbitz KD. Progressive myoclonus epilepsy and mitochondrial myopathy associated with mutations in the tRNA(Ser(UCN)) gene. Ann Neurol. 1998 Oct;44(4):635-40. doi: 10.1002/ana.410440409.
- Komlosi K, Maasz A, Kisfali P, Hadzsiev K, Bene J, Melegh BI, Melegh B, Ablonczy M, Nemeth K, Fekete G. Non-syndromic Hearing Impairment in a Hungarian Family with the m.7510T>C Mutation of Mitochondrial tRNA(Ser(UCN)) and Review of Published Cases. JIMD Rep. 2013;9:105-111. doi: 10.1007/8904_2012_187. Epub 2012 Nov 2.
- Maasz A, Komlosi K, Hadzsiev K, Szabo Z, Willems PJ, Gerlinger I, Kosztolanyi G, Mehes K, Melegh B. Phenotypic variants of the deafness-associated mitochondrial DNA A7445G mutation. Curr Med Chem. 2008;15(13):1257-62. doi: 10.2174/092986708784534910.
- Nakamura M, Nakano S, Goto Y, Ozawa M, Nagahama Y, Fukuyama H, Akiguchi I, Kaji R, Kimura J. A novel point mutation in the mitochondrial tRNA(Ser(UCN)) gene detected in a family with MERRF/MELAS overlap syndrome. Biochem Biophys Res Commun. 1995 Sep 5;214(1):86-93. doi: 10.1006/bbrc.1995.2260.
- Pulkes T, Liolitsa D, Eunson LH, Rose M, Nelson IP, Rahman S, Poulton J, Marchington DR, Landon DN, Debono AG, Morgan-Hughes JA, Hanna MG. New phenotypic diversity associated with the mitochondrial tRNA(SerUCN) gene mutation. Neuromuscul Disord. 2005 May;15(5):364-71. doi: 10.1016/j.nmd.2005.01.006.
- Sevior KB, Hatamochi A, Stewart IA, Bykhovskaya Y, Allen-Powell DR, Fischel-Ghodsian N, Maw MA. Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness. Am J Med Genet. 1998 Jan 13;75(2):179-85.
- Toompuu M, Yasukawa T, Suzuki T, Hakkinen T, Spelbrink JN, Watanabe K, Jacobs HT. The 7472insC mitochondrial DNA mutation impairs the synthesis and extent of aminoacylation of tRNASer(UCN) but not its structure or rate of turnover. J Biol Chem. 2002 Jun 21;277(25):22240-50. doi: 10.1074/jbc.M200338200. Epub 2002 Mar 27.
- Usami SI, Nishio SY. Nonsyndromic Hearing Loss and Deafness, Mitochondrial. 2004 Oct 22 [updated 2018 Jun 14]. In: Adam MP, Bick S, Mirzaa GM, Wallace SE, Amemiya A, editors. GeneReviews(R) [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2026. Available from http://www.ncbi.nlm.nih.gov/books/NBK1422/
- Zheng J, Ji Y, Guan MX. Mitochondrial tRNA mutations associated with deafness. Mitochondrion. 2012 May;12(3):406-13. doi: 10.1016/j.mito.2012.04.001. Epub 2012 Apr 16.
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