Gene: AARS2

Alternate names for this Gene: AARSL|COXPD8|LKENP|MT-ALARS|MTALARS

Gene Summary: 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.

Gene is located in Chromosome: 6

Location in Chromosome : 6p21.1

Description of this Gene: alanyl-tRNA synthetase 2, mitochondrial

Type of Gene: protein-coding

rs387907061 in AARS2 gene and COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 8 PMID 21549344 2011 Exome sequencing identifies mitochondrial alanyl-tRNA synthetase mutations in infantile mitochondrial cardiomyopathy.

rs587777590 in AARS2 gene and LEUKOENCEPHALOPATHY, PROGRESSIVE, WITH OVARIAN FAILURE PMID 24808023 2014 Novel (ovario) leukodystrophy related to AARS2 mutations.