| Primary Identifier | MGI:1918673 | Organism | mouse, laboratory |
| Chromosome | 18 | NCBI Gene Number | 100502841 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Acts upstream of or within autophagosome maturation and endocytic recycling. Predicted to be located in lysosome and perinuclear region of cytoplasm. Predicted to be active in cytoplasm. Used to study amyotrophic lateral sclerosis and retinitis pigmentosa. Human ortholog(s) of this gene implicated in Vici syndrome. Orthologous to human EPG5 (ectopic P-granules 5 autophagy tethering factor). PHENOTYPE: Mice homozygous for a knock-out allele exhibit dysfunctional autophagy that leads to aggregate inclusions in motor neurons, motor neuron degeneration, denervation, muscle degeneration and premature death. [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
