| Primary Identifier | MGI:1349385 | Organism | mouse, laboratory |
| Chromosome | 6 | NCBI Gene Number | 26903 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables alpha-tubulin binding activity and microtubule binding activity. Involved in vesicle fusion. Acts upstream of or within several processes, including myeloid cell activation involved in immune response; negative regulation of macromolecule metabolic process; and plasma membrane organization. Located in several cellular components, including T-tubule; lamellipodium; and microtubule. Is expressed in future spinal cord and heart ventricle. Used to study autosomal recessive limb-girdle muscular dystrophy type 2B and distal myopathy. Human ortholog(s) of this gene implicated in Miyoshi muscular dystrophy 1; autosomal recessive limb-girdle muscular dystrophy type 2B; distal myopathy with anterior tibial onset; and muscular dystrophy. Orthologous to human DYSF (dysferlin). PHENOTYPE: Homozygotes display dystrophic muscle changes and progressive muscle weakness developing over time. [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
