Primary Identifier | MGI:2685628 | Organism | mouse, laboratory |
Chromosome | 2 | NCBI Gene Number | 332579 |
Mgi Type | protein coding gene |
description | FUNCTION: Automated description from the Alliance of Genome Resources (Release 8.0.0) Enables CARD domain binding activity. Involved in several processes, including antifungal innate immune response; positive regulation of MAPK cascade; and regulation of gene expression. Acts upstream of or within several processes, including positive regulation of JNK cascade; regulation of cytokine production; and response to bacterium. Part of CBM complex. Human ortholog(s) of this gene implicated in primary immunodeficiency disease. Orthologous to human CARD9 (caspase recruitment domain family member 9). PHENOTYPE: Mice homozygous for one allele of this gene display impaired immune responses to fungal infection but normal rates of bacterial clearance. However, homozygotes for a second allele display impaired bacterial clearance and impaired early innate immune responses. [provided by MGI curators] |