| Primary Identifier | MGI:1931787 | Organism | mouse, laboratory |
| Chromosome | 19 | NCBI Gene Number | 78891 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Predicted to enable ATP binding activity and protein kinase activity. Acts upstream of or within inflammatory response; neuron differentiation; and protein localization. Located in cytoplasm. Part of COPI vesicle coat. Is expressed in hindbrain; jaw; otic capsule; and skeleton. Used to study hereditary ataxia. Human ortholog(s) of this gene implicated in autosomal recessive spinocerebellar ataxia 21. Orthologous to human SCYL1 (SCY1 like pseudokinase 1). PHENOTYPE: Mice homozygous for a spontaneous mutation or a knock-out allele develop a motoneuron disease characterized by gait ataxia, reduced grip strength, tremors, progressive hindlimb paralysis, muscular atrophy, and motoneuron degeneration. [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
