Primary Identifier | MGI:108072 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 22034 |
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 several processes, including cytokine-mediated signaling pathway; positive regulation of signal transduction; and regulation of gene expression. Acts upstream of or within several processes, including antigen processing and presentation of exogenous peptide antigen via MHC class II; lipopolysaccharide-mediated signaling pathway; and regulation of gene expression. Located in cytoplasmic side of plasma membrane; cytosol; and lipid droplet. Part of CD40 receptor complex. Is active in glutamatergic synapse. Is expressed in several structures, including aorta-gonad-mesonephros; future brain; lower jaw; mandibular process; and sensory organ. Used to study hypohidrotic ectodermal dysplasia. Orthologous to human TRAF6 (TNF receptor associated factor 6). PHENOTYPE: Viability is reduced in mice lacking both functional copies of this gene, with death occuring just before birth or around weaning. Mutants exhibit osteopetrosis and immune defects including abnormal immune cell development and function. [provided by MGI curators] |