This gene encodes a mitochondrial protein that catalyzes the attachment of tyrosine to tRNA(Tyr). Mutations in this gene are associated with myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2). [provided by RefSeq, Jan 2011].
Riley, Menezes, Rudinger-Thirion, Duff, de Lonlay, Rotig, Tchan, Davis, Cooper, Christodoulou: "Phenotypic variability and identification of novel YARS2 mutations in YARS2 mitochondrial myopathy, lactic acidosis and sideroblastic anaemia." in: Orphanet journal of rare diseases, Vol. 8, pp. 193, (2014) (PubMed).
Riley, Cooper, Hickey, Rudinger-Thirion, McKenzie, Compton, Lim, Thorburn, Ryan, Giegé, Bahlo, Christodoulou: "Mutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndrome." in: American journal of human genetics, Vol. 87, Issue 1, pp. 52-9, (2010) (PubMed).
Bonnefond, Frugier, Touzé, Lorber, Florentz, Giegé, Sauter, Rudinger-Thirion: "Crystal structure of human mitochondrial tyrosyl-tRNA synthetase reveals common and idiosyncratic features." in: Structure (London, England : 1993), Vol. 15, Issue 11, pp. 1505-16, (2007) (PubMed).
Bonnefond, Fender, Rudinger-Thirion, Giegé, Florentz, Sissler: "Toward the full set of human mitochondrial aminoacyl-tRNA synthetases: characterization of AspRS and TyrRS." in: Biochemistry, Vol. 44, Issue 12, pp. 4805-16, (2005) (PubMed).
Bonnefond, Frugier, Giegé, Rudinger-Thirion: "Human mitochondrial TyrRS disobeys the tyrosine identity rules." in: RNA (New York, N.Y.), Vol. 11, Issue 5, pp. 558-62, (2005) (PubMed).