glycyl-tRNA synthetase 1
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The GARS1 gene provides instructions for making an enzyme called glycine—tRNA ligase. This enzyme is found in all cell types and plays an important role in the production of proteins. During protein production, protein building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycine—tRNA ligase helps add the amino acid glycine at the proper place in a protein's chain of amino acids.
Normal function
The GARS1 gene provides instructions for making an enzyme called glycine—tRNA ligase. This enzyme is found in all cell types and plays an important role in the production of proteins. During protein production, protein building blocks (amino acids) are connected together in a specific order, creating a chain of amino acids. Glycine—tRNA ligase helps add the amino acid glycine at the proper place in a protein's chain of amino acids.
Conditions referring to this gene or chromosome
Other names
CMT2D
DSMAV
GARS
glycine tRNA ligase
GlyRS
SMAD1
SYG_HUMAN
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Leitura adicional e referências
- glycyl-tRNA synthetase 1; MedlinePlus, National Library of Medicine.
- Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10.
- Antonellis A, Lee-Lin SQ, Wasterlain A, Leo P, Quezado M, Goldfarb LG, Myung K, Burgess S, Fischbeck KH, Green ED. Functional analyses of glycyl-tRNA synthetase mutations suggest a key role for tRNA-charging enzymes in peripheral axons. J Neurosci. 2006 Oct 11;26(41):10397-406. doi: 10.1523/JNEUROSCI.1671-06.2006.
- Griffin LB, Sakaguchi R, McGuigan D, Gonzalez MA, Searby C, Zuchner S, Hou YM, Antonellis A. Impaired function is a common feature of neuropathy-associated glycyl-tRNA synthetase mutations. Hum Mutat. 2014 Nov;35(11):1363-71. doi: 10.1002/humu.22681.
- James PA, Cader MZ, Muntoni F, Childs AM, Crow YJ, Talbot K. Severe childhood SMA and axonal CMT due to anticodon binding domain mutations in the GARS gene. Neurology. 2006 Nov 14;67(9):1710-2. doi: 10.1212/01.wnl.0000242619.52335.bc.
- Nangle LA, Zhang W, Xie W, Yang XL, Schimmel P. Charcot-Marie-Tooth disease-associated mutant tRNA synthetases linked to altered dimer interface and neurite distribution defect. Proc Natl Acad Sci U S A. 2007 Jul 3;104(27):11239-44. doi: 10.1073/pnas.0705055104. Epub 2007 Jun 26.
- Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations. Brain. 2005 Oct;128(Pt 10):2304-14. doi: 10.1093/brain/awh590. Epub 2005 Jul 13.
- Sleigh JN, Dawes JM, West SJ, Wei N, Spaulding EL, Gomez-Martin A, Zhang Q, Burgess RW, Cader MZ, Talbot K, Yang XL, Bennett DL, Schiavo G. Trk receptor signaling and sensory neuron fate are perturbed in human neuropathy caused by Gars mutations. Proc Natl Acad Sci U S A. 2017 Apr 18;114(16):E3324-E3333. doi: 10.1073/pnas.1614557114. Epub 2017 Mar 28.
- Xie W, Nangle LA, Zhang W, Schimmel P, Yang XL. Long-range structural effects of a Charcot-Marie-Tooth disease-causing mutation in human glycyl-tRNA synthetase. Proc Natl Acad Sci U S A. 2007 Jun 12;104(24):9976-81. doi: 10.1073/pnas.0703908104. Epub 2007 Jun 1.
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