| Primary Identifier | MGI:103008 | Organism | mouse, laboratory |
| Chromosome | 17 | NCBI Gene Number | 13823 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Predicted to enable cytoskeletal protein-membrane anchor activity. Predicted to be a structural constituent of cytoskeleton. Involved in several processes, including nervous system development; paranodal junction maintenance; and protein localization to axon. Located in juxtaparanode region of axon; paranode region of axon; and postsynaptic density. Colocalizes with axolemma. Is expressed in several structures, including central nervous system; notochord; paraxial mesenchyme; and retina. Human ortholog(s) of this gene implicated in esophagus squamous cell carcinoma. Orthologous to human EPB41L3 (erythrocyte membrane protein band 4.1 like 3). PHENOTYPE: Mice homozygous for one knock-out allele display a normal phenotype. Mice homozygous for a different knock-out allele exhibit ataxia, gait abnormalities, clasping, hypermyelination, abnormal axon morphology, and decreased internode length. [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
