其他名称： CIITA; MHC2TA; MHC class II transactivator; CIITA
实测条带： 123kD
信号通路： Antigen processing and presentation;Primary immunodeficiency;
功能： disease:Defects in CIITA are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.,function:Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter.,online information:CIITA mutation db,similarity:Contains 1 NACHT domain.,similarity:Contains 4 LRR (leucine-rich) repeats.,subunit:Interacts with ZXDA and ZXDC.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Nucleus, PML body . Recruited to PML body by PML.
其他名称： CIITA; MHC2TA; MHC class II transactivator; CIITA
实测条带： 123kD
信号通路： Antigen processing and presentation;Primary immunodeficiency;
功能： disease:Defects in CIITA are a cause of bare lymphocyte syndrome type 2 (BLS2) [MIM:209920]; also known as hereditary MHC class II deficiency or HLA class II-deficient combined immunodeficiency. BLS2 is a severe combined immunodeficiency disease with early onset. It is characterized by a profound defect in constitutive and interferon-gamma induced MHC II expression, absence of cellular and humoral T-cell response to antigen challenge, hypogammaglobulinemia and impaired antibody production. The consequence include extreme susceptibility to viral, bacterial and fungal infections.,function:Essential for transcriptional activity of the HLA class II promoter; activation is via the proximal promoter. No DNA binding of in vitro translated CIITA was detected. May act in a coactivator-like fashion through protein-protein interactions by contacting factors binding to the proximal MHC class II promoter, to elements of the transcription machinery, or both. Alternatively it may activate HLA class II transcription by modifying proteins that bind to the MHC class II promoter.,online information:CIITA mutation db,similarity:Contains 1 NACHT domain.,similarity:Contains 4 LRR (leucine-rich) repeats.,subunit:Interacts with ZXDA and ZXDC.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Nucleus . Nucleus, PML body . Recruited to PML body by PML.
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