Primary Identifier | MGI:1344372 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 24105 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables ubiquitin ligase activator activity. Involved in positive regulation of apoptotic process; positive regulation of intracellular signal transduction; and protein polyubiquitination. Acts upstream of or within negative regulation of necroptotic process and positive regulation of extrinsic apoptotic signaling pathway. Part of LUBAC complex. Is expressed in several structures, including central nervous system; genitourinary system; heart; lung; and sensory organ. Human ortholog(s) of this gene implicated in glycogen storage disease. Orthologous to human RBCK1 (RANBP2-type and C3HC4-type zinc finger containing 1). PHENOTYPE: Mice homozygous for a knock-out allele exhibit increased TNF-induced hepatocyte apoptosis. [provided by MGI curators] |