Primary Identifier | MGI:1917205 | Organism | mouse, laboratory |
Chromosome | 13 | NCBI Gene Number | 69955 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable phenylalanine-tRNA ligase activity and tRNA binding activity. Predicted to be involved in phenylalanyl-tRNA aminoacylation and tRNA processing. Located in mitochondrion. Is expressed in several structures, including alimentary system; integumental system; nervous system; respiratory system; and sensory organ. Human ortholog(s) of this gene implicated in combined oxidative phosphorylation deficiency 14 and hereditary spastic paraplegia 77. Orthologous to human FARS2 (phenylalanyl-tRNA synthetase 2, mitochondrial). PHENOTYPE: Mice homozygous for loss of function alleles arrest at the early streak stage. Mice with loss of expression in nervous tissue display neonatal lethality, thin cerebral cortex, and mitochondrial dysfunction. [provided by MGI curators] |