| Primary Identifier | MGI:2449057 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 353172 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables glycine-tRNA ligase activity. Acts upstream of or within glycyl-tRNA aminoacylation. Located in extracellular exosome and secretory granule. Is expressed in several structures, including alimentary system; cardiovascular system; nervous system; respiratory system; and urinary system. Used to study Charcot-Marie-Tooth disease type 2D. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2D and autosomal dominant distal hereditary motor neuronopathy 5. Orthologous to human GARS1 (glycyl-tRNA synthetase 1). PHENOTYPE: A dominant mutation results in sensory and motor axon degeneration in affected mice, with defects in synaptic transmission, nerve conduction and premature death. A loss of function mutation results in embryonic lethality in homozygous mice, and no discernible phenotype in heterozygous mice. [provided by MGI curators] |
Features --> Cross References
Canonical gene --> CDSs in specific strains.
Canonical gene --> Exons in specific strains
Canonical gene --> Strain-specific IDs, biotypes, and locations
Canonical gene --> Transcripts in specific strains.
Features --> Overlapping features
