Aars - alanyl-tRNA synthetase Gene

种属: Mus musculus

同用名: sti; Aars1

关于 Aars

功能概要

Enables Ser-tRNA(Ala) hydrolase activity; alanine-tRNA Ligase activity; and translation regulator activity. Involved in alanyl-tRNA aminoacylation; regulation of cytoplasmic translational fidelity; and tRNA modification. Acts upstream of or within cerebellar Purkinje cell layer development; negative regulation of neuron apoptotic process; and neuromuscular process controlling balance. Predicted to be located in cytoplasm. Predicted to be active in mitochondrion. Is expressed in several structures, including adrenal gland; alimentary system; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N and developmental and epileptic encephalopathy 29. Orthologous to human AARS1 (alanyl-tRNA synthetase 1). [provided by Alliance of Genome Resources, Apr 2022]