aars-2 encodes a predicted cytoplasmic alanyl-tRNA synthetase (AlaRS), a class II aminoacyl-tRNA synthetase that catalyzes the attachment of alanine to its cognate tRNA and is thus required for protein biosynthesis; AARS-2 is essential for embryogenesis, and is required for fertility and a normal rate of postembryonic development; AARS-2 expression is likely ubiquitous and detected in hypodermis, intestine, neurons, and the pharynx from late embryogenesis through the adult stage of development.
Predicted to enable alanine-tRNA ligase activity and aminoacyl-tRNA editing activity. Predicted to be involved in alanyl-tRNA aminoacylation. Predicted to be located in mitochondrion. Expressed widely. Human ortholog(s) of this gene implicated in several diseases, including Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; and trichothiodystrophy. Is an ortholog of human AARS1 (alanyl-tRNA synthetase 1).
Map position created from combination of previous interpolated map position (based on known location of sequence) and allele information. Therefore this is not a genetic map position based on recombination frequencies or genetic experiments. This was done on advice of the CGC.
CGC_data_submission
[150305 mt3] Gene Resurrected via id_ressurect.pl Additional comments: