Primary Identifier | MGI:2147627 | Organism | mouse, laboratory |
Chromosome | 4 | NCBI Gene Number | 107271 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable small molecule binding activity and tyrosine-tRNA ligase activity. Predicted to be involved in response to starvation and tyrosyl-tRNA aminoacylation. Predicted to act upstream of or within translation. Predicted to be located in nuclear body. Predicted to be active in cytosol and nucleus. Is expressed in several structures, including alimentary system; brain; genitourinary system; respiratory system; and sensory organ. Used to study Charcot-Marie-Tooth disease dominant intermediate C. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease dominant intermediate C. Orthologous to human YARS1 (tyrosyl-tRNA synthetase 1). PHENOTYPE: Homozygous p.E196K mutation induces integrated stress response in motor neurons and spinal cord. [provided by MGI curators] |