Primary Identifier | MGI:1289308 | Organism | mouse, laboratory |
Chromosome | 6 | NCBI Gene Number | 52440 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 7.0.0) Enables kinase binding activity. Predicted to be involved in negative regulation of apoptotic process; protein localization to phagocytic vesicle; and regulation of pattern recognition receptor signaling pathway. Predicted to act upstream of or within apoptotic process. Predicted to be located in cytoplasmic vesicle. Predicted to be active in mitochondrion. Is expressed in central nervous system; genital tubercle; limb mesenchyme; and retina nuclear layer. Orthologous to human TAX1BP1 (Tax1 binding protein 1). PHENOTYPE: Knockout mice are born alive but fail to thrive and develop inflammatory cardiac valvulitis and dermatitis, die prematurely, and are hypersensitive to low doses of TNF and IL-1beta. In contrast, embryos homozygous for a gene trap mutation die at E13.5 from hemorrhaging and/or cardiac defects. [provided by MGI curators] |