Catalyzes the attachment of tyrosine to tRNA(Tyr) in a two-step reaction: tyrosine is first activated by ATP to form Tyr-AMP and then transferred to the acceptor end of tRNA(Tyr). Defects in YARS2 are the cause of myopathy with lactic acidosis and sideroblastic anemia type 2 (MLASA2) [MIM:613561]. MLASA2 is a rare oxidative phosphorylation disorder specific to skeletal muscle and bone marrow. Affected individuals manifest sideroblastic anemia, progressive lethargy, muscle weakness, and exercise intolerance associated with persistent lactic acidemia.
Background References
1. Gaudet P et al. Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium. Brief. Bioinformatics 12:449-462 (2011).
Sequence Similarity
Belongs to the class-I aminoacyl-tRNA synthetase family.
IF staining of YARS2 in Zebrafish embryos (green). The nuclear counter stain is DAPI (blue). Cells were fixed in paraformaldehyde, permeabilised with 0.25% Triton X100/PBS.
Immunohistochemical analysis of paraffin-embedded Zebrafish embryos tissue section using anti-YARS2 antibody. Counter stained with hematoxylin.
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