| Primary Identifier | MGI:1354724 | Organism | mouse, laboratory |
| Chromosome | 14 | NCBI Gene Number | 50720 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.4.0) Predicted to enable several functions, including Hsp70 protein binding activity; low-density lipoprotein particle receptor binding activity; and proteasome binding activity. Predicted to be involved in negative regulation of inclusion body assembly. Predicted to be located in mitochondrion and nucleus. Is expressed in dorsal root ganglion; facial ganglion; glossopharyngeal ganglion; trigeminal ganglion; and vagus ganglion. Used to study Charlevoix-Saguenay spastic ataxia. Human ortholog(s) of this gene implicated in Charlevoix-Saguenay spastic ataxia. Orthologous to human SACS (sacsin molecular chaperone). PHENOTYPE: Mice homozygous for a knockout allele exhibit Purkinje cell degeneration with thickened tortuous dendrites and altered mitochondrial dysfunction. [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
