| Primary Identifier | MGI:1890574 | Organism | mouse, laboratory |
| Chromosome | 7 | NCBI Gene Number | 80297 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables actin binding activity; ankyrin binding activity; and spectrin binding activity. Involved in clustering of voltage-gated sodium channels and protein localization to plasma membrane. Acts upstream of or within several processes, including adult walking behavior; regulation of heart contraction; and regulation of peptidyl-serine phosphorylation. Located in several cellular components, including axon; cell body fiber; and intercalated disc. Is active in juxtaparanode region of axon. Colocalizes with adherens junction. Is expressed in several structures, including liver; neural ectoderm; optic vesicle; spinal cord lateral wall; and spleen. Orthologous to human SPTBN4 (spectrin beta, non-erythrocytic 4). PHENOTYPE: Homozygotes for spontaneous mutations exhibit tremors, progressive ataxia with hind limb paralysis, central deafness, reduced body weight, and shortened lifespan. Males are sterile, but females may breed. [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
