| Primary Identifier | MGI:2145264 | Organism | mouse, laboratory |
| Chromosome | 13 | NCBI Gene Number | 105193 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.1.0) Enables ubiquitin protein ligase activity. Involved in glycogen biosynthetic process. Acts upstream of or within several processes, including glycogen metabolic process; proteasome-mediated ubiquitin-dependent protein catabolic process; and regulation of protein modification process. Located in nucleus and perinuclear region of cytoplasm. Used to study Lafora disease. Orthologous to human NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit accumulation of Lafora bodies and total glycogen levels in the heart muscle, skeletal muscle, and brain. [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
