| Primary Identifier | MGI:104627 | Organism | mouse, laboratory |
| Chromosome | 1 | NCBI Gene Number | 13518 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables protein homodimerization activity. Involved in cytoskeleton organization and retrograde axonal transport. Acts upstream of or within axonogenesis. Located in several cellular components, including cytoskeleton; endoplasmic reticulum; and sarcomere. Is active in type III intermediate filament. Is expressed in several structures, including alimentary system; genitourinary system; integumental system; nervous system; and retina nuclear layer. Used to study hereditary sensory and autonomic neuropathy type 6 and hereditary sensory neuropathy. Human ortholog(s) of this gene implicated in epidermolysis bullosa simplex and hereditary sensory and autonomic neuropathy type 6. Orthologous to human DST (dystonin). PHENOTYPE: Mutations in this gene produce peripheral nervous system demyelination resulting in impaired muscle function and shorter lifespan. [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
