背景介绍
disease:Defects in CD40LG are the cause of X-linked immunodeficiency with hyper-IgM type 1 (HIGM1) [MIM:308230]; also known as X-linked hyper IgM syndrome (XHIM). HIGM1 is an immunoglobulin isotype switch defect characterized by elevated concentrations of serum IgM and decreased amounts of all other isotypes. Affected males present at an early age (usually within the first year of life) recurrent bacterial and opportunistic infections, including Pneumocystis carinii pneumonia and intractable diarrhea due to cryptosporidium infection. Despite substitution treatment with intravenous immunoglobulin, the overall prognosis is rather poor, with a death rate of about 10% before adolescence.,function:Mediates B-cell proliferation in the absence of co-stimulus as well as IgE production in the presence of IL-4. Involved in immunoglobulin class switching.,function:Release of soluble CD40L from platelets is partially regulated by GP IIb/IIIa, actin polymerization, and an matrix metalloproteinases (MMP) inhibitor-sensitive pathway.,online information:CD40L defect database,PTM:N-linked glycan is a mixture of high mannose and complex type. Glycan structure does not influence binding affinity to CD40.,PTM:Not O-glycosylated.,PTM:The soluble form derives from the membrane form by proteolytic processing.,similarity:Belongs to the tumor necrosis factor family.,subunit:Homotrimer.,tissue specificity:Specifically expressed on activated CD4+ T-lymphocytes.,
功能
cell activation,?regulation of cytokine production,?positive regulation of cytokine production,?somatic diversification of immune receptors,?somatic recombination of immunoglobulin genes during immune response,?somatic diversification of immunoglobulins during immune response,?adaptive immune response,?immune effector process,?immunoglobulin production,?immunoglobulin production during immune response,?production of molecular mediator of immune response,?leukocyte mediated immunity,?lymphocyte mediated immunity,?adaptive immune response based on somatic recombination of immune receptors built from immunoglobulin superfamily domains,?immune system development,leukocyte differentiation,?somatic diversification of immune receptors via germline recombination within a single locus,regulation of immunoglobulin production,?regulation of immune effector process,?regulation of production of molecular mediator of immune response,?DNA metabolic process,?DNA recombination,?anti-apoptosis,?defense response,inflammatory response,?immune response,?cell adhesion,?leukocyte adhesion,?blood coagulation,?hemostasis,?protein localization,?cell proliferation,?protein secretion,?response to wounding,?regulation of cell death,?protein transport,immunoglobulin mediated immune response,?cell-cell adhesion,?somatic cell DNA recombination,?somatic diversification of immunoglobulins,?somatic recombination of immunoglobulin gene segments,?B cell mediated immunity,?biological adhesion,?hemopoiesis,?lymphocyte differentiation,?platelet activation,?B cell differentiation,?regulation of interleukin-12 production,?positive regulation of interleukin-12 production,?regulation of protein localization,?secretion by cell,mononuclear cell proliferation,?wound healing,?B cell proliferation,?B cell activation,?regulation of apoptosis,?negative regulation of apoptosis,?regulation of programmed cell death,?negative regulation of programmed cell death,establishment of protein localization,?isotype switching,?leukocyte activation,?lymphocyte activation,?lymphocyte proliferation,?secretion,?immunoglobulin secretion,?hemopoietic or lymphoid organ development,?regulation of protein secretion,?coagulation,?regulation of body fluid levels,?regulation of immunoglobulin secretion,?regulation of secretion,regulation of protein transport,?positive regulation of multicellular organismal process,?regulation of cellular localization,?negative regulation of cell death,?regulation of establishment of protein localization,?leukocyte proliferation,
