AARS2 Antibody – Goat Polyclonal

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]

AARSL: 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. Defects in AARS2 are the cause of combined oxidative phosphorylation deficiency type 8 (COXPD8). A mitochondrial disease characterized by a lethal infantile hypertrophic cardiomyopathy, generalized muscle dysfunction and some neurologic involvement. The liver is not affected. Belongs to the class-II aminoacyl-tRNA synthetase family.

Protein type: Ligase; Translation; EC 6.1.1.7

Chromosomal Location of Human Ortholog: 6p21.1

Cellular Component: cytosol; mitochondrion

Molecular Function: alanine-tRNA ligase activity; amino acid binding; ATP binding; metal ion binding; tRNA binding

Biological Process: mitochondrial respiratory chain complex assembly; tRNA modification

Disease: Combined Oxidative Phosphorylation Deficiency 8; Leukoencephalopathy, Progressive, With Ovarian Failure