Primary Identifier | MGI:1933163 | Organism | mouse, laboratory |
Chromosome | 3 | NCBI Gene Number | 80890 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin protein ligase activity. Involved in regulation of neuron apoptotic process. Acts upstream of or within cellular response to leukemia inhibitory factor. Predicted to be located in cytoplasm. Is expressed in several structures, including central nervous system; genitourinary system; gut; peripheral nervous system ganglion; and sensory organ. Human ortholog(s) of this gene implicated in Charcot-Marie-Tooth disease type 2R. Orthologous to human TRIM2 (tripartite motif containing 2). PHENOTYPE: Mice homozygous for a gene trapped allele exhibit tremors, ataxia and seizures associated with neurodegeneration of Purkinje cells, deep cerebellar nuclei and retinal ganglion cells. [provided by MGI curators] |