功能： caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in CD3D are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK) [MIM:608971]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.,function:The CD3 complex mediates signal transduction.,online information:CD3D mutation db,similarity:Contains 1 ITAM domain.,subunit:The TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma, delta, epsilon, zeta, and eta.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane; Single-pass type I membrane protein.
组织表达： CD3D is mostly present on T-lymphocytes with its TCR-CD3 partners. Present also in fetal NK-cells.
功能： caution:The sequence shown here is derived from an Ensembl automatic analysis pipeline and should be considered as preliminary data.,disease:Defects in CD3D are a cause of severe combined immunodeficiency autosomal recessive T-cell-negative/B-cell-positive/NK-cell-positive (SCIDBNK) [MIM:608971]. SCID refers to a genetically and clinically heterogeneous group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels. Patients with SCID present in infancy with recurrent, persistent infections by opportunistic organisms. The common characteristic of all types of SCID is absence of T-cell-mediated cellular immunity due to a defect in T-cell development.,function:The CD3 complex mediates signal transduction.,online information:CD3D mutation db,similarity:Contains 1 ITAM domain.,subunit:The TCR/CD3 complex of T-lymphocytes consists of either a TCR alpha/beta or TCR gamma/delta heterodimer coexpressed at the cell surface with the invariant subunits of CD3 labeled gamma, delta, epsilon, zeta, and eta.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane; Single-pass type I membrane protein.
组织表达： CD3D is mostly present on T-lymphocytes with its TCR-CD3 partners. Present also in fetal NK-cells.
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