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  3. YARS2 Rabbit Polyclonal Antibody
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YARS2 Rabbit Polyclonal Antibody

Product ID: 8225913


Gentaur Catalog Number

GTR09935290
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100 µL

$657.02
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Selected
100 µL

$657.02

1

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.