Primary Identifier | MGI:2681839 | Organism | mouse, laboratory |
Chromosome | 17 | NCBI Gene Number | 224805 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Predicted to enable alanine-tRNA ligase activity and aminoacyl-tRNA editing activity. Predicted to be involved in mitochondrial alanyl-tRNA aminoacylation. Predicted to act upstream of or within translation. Located in mitochondrion. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 8 and progressive leukoencephalopathy with ovarian failure. Orthologous to human AARS2 (alanyl-tRNA synthetase 2, mitochondrial). PHENOTYPE: Alleles with single amino acid substitutions that result in loss of tRNA proofreading are embryonic lethal and E8.5 embryos are small. [provided by MGI curators] |