Aliases for AARS2 Gene
External Ids for AARS2 Gene
Previous HGNC Symbols for AARS2 Gene
Previous GeneCards Identifiers for AARS2 Gene
The protein encoded by this gene belongs to the class-II aminoacyl-tRNA synthetase family. Aminoacyl-tRNA synthetases play critical roles in mRNA translation by charging tRNAs with their cognate amino acids. The encoded protein is a mitochondrial enzyme that specifically aminoacylates alanyl-tRNA. Mutations in this gene are a cause of combined oxidative phosphorylation deficiency 8. [provided by RefSeq, Dec 2011]
GeneCards Summary for AARS2 Gene
AARS2 (Alanyl-TRNA Synthetase 2, Mitochondrial) is a Protein Coding gene. Diseases associated with AARS2 include Combined Oxidative Phosphorylation Deficiency 8 and Leukoencephalopathy, Progressive, With Ovarian Failure. Among its related pathways are tRNA Aminoacylation and Gene Expression. Gene Ontology (GO) annotations related to this gene include nucleic acid binding and tRNA binding. An important paralog of this gene is AARS1.
UniProtKB/Swiss-Prot Summary for AARS2 Gene
Catalyzes the attachment of alanine to tRNA(Ala) in a two-step reaction: alanine is first activated by ATP to form Ala-AMP and then transferred to the acceptor end of tRNA(Ala). Also edits incorrectly charged tRNA(Ala) via its editing domain.