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 8.0.0) 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 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] |