Enables CARD domain binding activity; identical protein binding activity; and signaling adaptor activity. Involved in several processes, including antifungal innate immune response; non-canonical NF-kappaB signal transduction; and regulation of gene expression. Acts upstream of or within several processes, including cellular defense response; lymphocyte apoptotic process; and regulation of signal transduction. Located in cytosol; immunological synapse; and membrane raft. Part of CBM complex and polkadots. Is expressed in several structures, including alimentary system; central nervous system; genitourinary system; sensory organ; and vibrissa follicle. Human ortholog(s) of this gene implicated in extranodal marginal zone lymphoma of mucosa-associated lymphoid tissue; immunodeficiency 37; malignant mesothelioma; and non-Hodgkin lymphoma. Orthologous to human BCL10 (BCL10 immune signaling adaptor).
MGI Description
PHENOTYPE: About one-third of homozygous null embryos die exhibiting exencephaly. Surviving mutants display immunological defects including severe immunodeficiency, abnormal B cell development and function, and impaired humoral response to bacterial infection. [provided by MGI curators]