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 8.0.0) Enables peptide lactyltransferase (ATP-dependent) activity. Involved in negative regulation of cGAS/STING signaling pathway. 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] |