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AARS2

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Template:PBB Alanyl—tRNA synthetase, mitochondrial, also known as alanine—tRNA ligase (AlaRS) or alanyl—tRNA synthetase 2 (AARS2), is an enzyme that in humans is encoded by the AARS2 gene.[1][2]

Clinical relevance

Mutations in the AARS2 gene result in infantile mitochondrial cardiomyopathies.[3]

References

  1. ^ "Entrez Gene: alanyl-tRNA synthetase 2".
  2. ^ Bonnefond L, Fender A, Rudinger-Thirion J, Giegé R, Florentz C, Sissler M (March 2005). "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS". Biochemistry. 44 (12): 4805–16. doi:10.1021/bi047527z. PMID 15779907.{{cite journal}}: CS1 maint: multiple names: authors list (link)
  3. ^ G?tz A, Tyynismaa H, Euro L, Ellonen P, Hy?tyl?inen T, Ojala T, H?m?l?inen RH, Tommiska J, Raivio T, Oresic M, Karikoski R, Tammela O, Simola KO, Paetau A, Tyni T, Suomalainen A (May 2011). "Exome Sequencing Identifies Mitochondrial Alanyl-tRNA Synthetase Mutations in Infantile Mitochondrial Cardiomyopathy". Am J Hum Genet. 88 (5): 635–42. doi:10.1016/j.ajhg.2011.04.006. PMC 3146718. PMID 21549344.{{cite journal}}: CS1 maint: multiple names: authors list (link)

Further reading