WARS2
{{Short description|Human protein and coding gene}}
{{Infobox_gene}}
Tryptophanyl-tRNA synthetase, mitochondrial is an enzyme that in humans is encoded by the WARS2 gene.{{cite journal | vauthors = Martinez-Dominguez MT, Justesen J, Kruse TA, Hansen LL | title = Assignment of the human mitochondrial tryptophanyl-tRNA synthetase (WARS2) to 1p13.3-->p13.1 by radiation hybrid mapping | journal = Cytogenetics and Cell Genetics | volume = 83 | issue = 3–4 | pages = 249–250 | date = Mar 1999 | pmid = 10072595 | doi = 10.1159/000015196 | s2cid = 28931531 }}{{cite journal | vauthors = Jorgensen R, Søgaard TM, Rossing AB, Martensen PM, Justesen J | title = Identification and characterization of human mitochondrial tryptophanyl-tRNA synthetase | journal = The Journal of Biological Chemistry | volume = 275 | issue = 22 | pages = 16820–16826 | date = June 2000 | pmid = 10828066 | doi = 10.1074/jbc.275.22.16820 | doi-access = free }}{{cite web | title = Entrez Gene: WARS2 tryptophanyl tRNA synthetase 2, mitochondrial| url = https://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=10352}}
Function
Aminoacyl-tRNA synthetases catalyze the aminoacylation of tRNA by their cognate amino acid. Because of their central role in linking amino acids with nucleotide triplets contained in tRNAs, aminoacyl-tRNA synthetases are thought to be among the first proteins that appeared in evolution. Two forms of tryptophanyl-tRNA synthetase exist, a cytoplasmic form, named WARS, and a mitochondrial form, named WARS2. This gene encodes the mitochondrial tryptophanyl-tRNA synthetase. Two alternative transcripts encoding different isoforms have been described. According to recent research, mutations of the mitochondrial form of the enzyme are believed to express two different neurological disorders: A subtype of autosomal recessive intellectual disability and a syndrome of severe infantile‐onset leukoencephalopathy.{{cite journal | vauthors = Burke EA, Frucht SJ, Thompson K, Wolfe LA, Yokoyama T, Bertoni M, Huang Y, Sincan M, Adams DR, Taylor RW, Gahl WA, Toro C, Malicdan MC | display-authors = 6 | title = Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism | journal = Clinical Genetics | volume = 93 | issue = 3 | pages = 712–718 | date = March 2018 | pmid = 29120065 | pmc = 5828974 | doi = 10.1111/cge.13172 }}
References
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Further reading
{{refbegin | 2}}
- {{cite journal | vauthors = Maruyama K, Sugano S | title = Oligo-capping: a simple method to replace the cap structure of eukaryotic mRNAs with oligoribonucleotides | journal = Gene | volume = 138 | issue = 1–2 | pages = 171–174 | date = January 1994 | pmid = 8125298 | doi = 10.1016/0378-1119(94)90802-8 }}
- {{cite journal | vauthors = Suzuki Y, Yoshitomo-Nakagawa K, Maruyama K, Suyama A, Sugano S | title = Construction and characterization of a full length-enriched and a 5'-end-enriched cDNA library | journal = Gene | volume = 200 | issue = 1–2 | pages = 149–156 | date = October 1997 | pmid = 9373149 | doi = 10.1016/S0378-1119(97)00411-3 }}
- {{cite journal | vauthors = Liu J, Shue E, Ewalt KL, Schimmel P | title = A new gamma-interferon-inducible promoter and splice variants of an anti-angiogenic human tRNA synthetase | journal = Nucleic Acids Research | volume = 32 | issue = 2 | pages = 719–727 | year = 2004 | pmid = 14757836 | pmc = 373357 | doi = 10.1093/nar/gkh240 }}
- {{cite journal | vauthors = Oh JH, Yang JO, Hahn Y, Kim MR, Byun SS, Jeon YJ, Kim JM, Song KS, Noh SM, Kim S, Yoo HS, Kim YS, Kim NS | display-authors = 6 | title = Transcriptome analysis of human gastric cancer | journal = Mammalian Genome | volume = 16 | issue = 12 | pages = 942–954 | date = December 2005 | pmid = 16341674 | doi = 10.1007/s00335-005-0075-2 | s2cid = 69278 }}
- {{cite journal | vauthors = Guo LT, Chen XL, Zhao BT, Shi Y, Li W, Xue H, Jin YX | title = Human tryptophanyl-tRNA synthetase is switched to a tRNA-dependent mode for tryptophan activation by mutations at V85 and I311 | journal = Nucleic Acids Research | volume = 35 | issue = 17 | pages = 5934–5943 | year = 2007 | pmid = 17726052 | pmc = 2034488 | doi = 10.1093/nar/gkm633 }}
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External links
- {{UCSC genome browser|WARS2}}
- {{UCSC gene details|WARS2}}
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