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6.1.1.12
malfunction
LBSL, i.e. leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, is a monogenic disease associated with a large variety of mutations affecting the human nuclear gene DARS2, encoding mt-AspRS, overview
714091
6.1.1.12
physiological function
the enzyme induces an anti-inflammatory effect in mice with T-cell transfer colitis by interacting with interleukin-8 receptors
727335
6.1.1.12
physiological function
the mitochondrial aspartyl-tRNA synthetase is a key enzyme for mitochondrial translation and is correlated with leukoencephalopathy
714091
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