| Primary Identifier | MGI:1917057 | Organism | mouse, laboratory |
| Chromosome | 4 | NCBI Gene Number | 69807 |
| Mgi Type | protein coding gene |
| description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables several functions, including identical protein binding activity; translation initiation factor binding activity; and ubiquitin protein ligase activity. Involved in several processes, including positive regulation of NF-kappaB transcription factor activity; positive regulation of cell differentiation; and response to tumor necrosis factor. Acts upstream of or within several processes, including muscle cell cellular homeostasis; positive regulation of cytokine-mediated signaling pathway; and protein ubiquitination. Located in nucleus and striated muscle myosin thick filament. Is expressed in central nervous system and genitourinary system. Used to study autosomal recessive limb-girdle muscular dystrophy type 2H. Human ortholog(s) of this gene implicated in Bardet-Biedl syndrome; Bardet-Biedl syndrome 11; autosomal recessive limb-girdle muscular dystrophy type 2H; and muscular dystrophy. Orthologous to human TRIM32 (tripartite motif containing 32). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit mild myopathy with sarcotubular myopathy, decreased fertility, and decreased axon diameter. Mice homozygous for a knock-out allele exhibit impaired adult muscle regeneration and myopathy. [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
