| Primary Identifier | MGI:1921494 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 74244 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables Atg12 activating enzyme activity and Atg8 activating enzyme activity. Involved in several processes, including macroautophagy; regulation of circadian rhythm; and synaptic vesicle cycle. Acts upstream of with a positive effect on chromatin organization. Acts upstream of or within several processes, including central nervous system development; defense response to symbiont; and regulation of primary metabolic process. Located in axoneme and perinuclear region of cytoplasm. Is active in dopaminergic synapse. Is expressed in central nervous system; heart; lower jaw molar; and retina. Used to study Parkinson's disease; myelodysplastic syndrome; and systemic lupus erythematosus. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 31. Orthologous to human ATG7 (autophagy related 7). PHENOTYPE: Mutation of this gene causes impairment of constitutive and starvation-induced autophagy resulting in defective protein degradation. Homozygous null mice die within 1 day of birth and have decreased body weight. [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
