| Primary Identifier | MGI:2384560 | Organism | mouse, laboratory |
| Chromosome | 8 | NCBI Gene Number | 234734 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Ser-tRNA(Ala) hydrolase activity and alanine-tRNA ligase activity. Involved in alanyl-tRNA aminoacylation; regulation of cytoplasmic translational fidelity; and tRNA modification. Acts upstream of or within cerebellar Purkinje cell layer development; negative regulation of neuron apoptotic process; and neuromuscular process controlling balance. Predicted to be located in cytosol. Predicted to be active in mitochondrion and nucleus. Is expressed in several structures, including adrenal gland; alimentary system; nervous system; respiratory system; and urinary system. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease axonal type 2N; developmental and epileptic encephalopathy 29; leukodystrophy; and trichothiodystrophy. Orthologous to human AARS1 (alanyl-tRNA synthetase 1). PHENOTYPE: Homozygotes for a spontaneous point mutation (A734E) exhibit a rough sticky coat, follicular dystrophy, patchy hair loss, progressive ataxia, and Purkinje cell degeneration. Homozygotes for a targeted point mutation (C723A) die by mid-gestation, while heterozygotes show mild Purkinje cell loss. [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
