Alanyl-tRNA synthetase 2, mitochondrial (AARS2)

Alanyl-tRNA synthetase 2, mitochondrial (AARS2) is a class II aminoacyl-tRNA synthetase located in mitochondria[6][7]. Its principal function is to catalyze the ATP-dependent ligation of alanine to its cognate mitochondrial tRNA (tRNA^Ala), a key step in the fidelity of mitochondrial protein synthesis[7][8]. The enzyme contains an editing domain that hydrolyzes mischarged tRNAs, especially those mistakenly loaded with serine or glycine instead of alanine, thus preventing misconstrued mitochondrial translation[3][4]. AARS2 also has a recently described role in protein lactylation, acting as a protein lactyltransferase when lactate is abundant, thereby regulating innate immune signaling through the cGAS/STING pathway[6][7]. Pathogenic variants in AARS2 cause combined oxidative phosphorylation deficiency 8, infantile-onset cardiomyopathy, and adult leukoencephalopathy (often with ovarian failure in females), reflecting tissue-specific consequences of impaired mitochondrial translation[3][4][6][8]. No drugs are currently known to target AARS2 directly, but the gene/protein is a diagnostic biomarker in relevant mitochondrial and neurodegenerative disorders[6][7].

Other names

AARSLKIAA1270AlaRSCOXPD8LKENPMT-ALARSMTALARSalanine tRNA ligase 2, mitochondrialalanyl-tRNA synthetase likealanine--tRNA ligase, mitochondrialprobable alanyl-tRNA synthetase, mitochondrialprotein lactyltransferase AARS2bA444E17.1

null (no current drugs are reported to target AARS2 directly)