| Primary Identifier | MGI:2178798 | Organism | mouse, laboratory |
| Chromosome | 11 | NCBI Gene Number | 245944 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable syntaxin binding activity. Involved in several processes, including chemical synaptic transmission; neurogenesis; and protein targeting. Acts upstream of or within musculoskeletal movement; neurofilament cytoskeleton organization; and regulation of growth. Part of GARP complex. Is active in mitochondrion. Used to study Werdnig-Hoffmann disease and amyotrophic lateral sclerosis type 1. Orthologous to human VPS54 (VPS54 subunit of GARP complex). PHENOTYPE: Homozygous mutants show progressive ataxia, tremors, and limb paralysis with degeneration of motor nerve cells of brainstem and spinal cord and atrophy of skeletal muscle beginning about 3-weeks of age. Mutants are sterile and most die by 3-months of age. [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
