Primary Identifier | MGI:108041 | Organism | mouse, laboratory |
Chromosome | 12 | NCBI Gene Number | 22031 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables protein kinase binding activity. Involved in regulation of defense response; regulation of macromolecule metabolic process; and tumor necrosis factor-mediated signaling pathway. Located in cytoplasmic side of plasma membrane. Part of CD40 receptor complex. Is expressed in several structures, including autopod; genitourinary system; hemolymphoid system gland; lower jaw epithelium; and mandibular process. Human ortholog(s) of this gene implicated in brain disease. Orthologous to human TRAF3 (TNF receptor associated factor 3). PHENOTYPE: Homozygous mutation of this gene results in progressive runting, hypoglycemia, and depletion of peripheral white blood cells, leading to death by 10 days of age. Immune responses to T-dependent antigen are impaired in lethally irradiated mice reconstituted with mutant cells. [provided by MGI curators] |