功能： disease:Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID) [MIM:312863]. XCID is a less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.,disease:Defects in IL2RG are the cause of X-linked severe combined immunodeficiency (XSCID) [MIM:300400]; also known as agammaglobulinemia Swiss type. 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.,domain:The box 1 motif is required for JAK interaction and/or activation.,domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,function:Common subunit for the receptors for a variety of interleukins.,online information:X-linked SCID mutation database,similarity:Belongs to the type I cytokine receptor family. Type 5 subfamily.,similarity:Contains 1 fibronectin type-III domain.,subunit:The gamma chain is common to the IL2, IL4, IL7, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein . Cell surface .
功能： disease:Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID) [MIM:312863]. XCID is a less severe form of X-linked immunodeficiency with a less severe degree of deficiency in cellular and humoral immunity than that seen in XSCID.,disease:Defects in IL2RG are the cause of X-linked severe combined immunodeficiency (XSCID) [MIM:300400]; also known as agammaglobulinemia Swiss type. 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.,domain:The box 1 motif is required for JAK interaction and/or activation.,domain:The WSXWS motif appears to be necessary for proper protein folding and thereby efficient intracellular transport and cell-surface receptor binding.,function:Common subunit for the receptors for a variety of interleukins.,online information:X-linked SCID mutation database,similarity:Belongs to the type I cytokine receptor family. Type 5 subfamily.,similarity:Contains 1 fibronectin type-III domain.,subunit:The gamma chain is common to the IL2, IL4, IL7, IL21 and probably also the IL13 receptors. Interacts with SHB upon interleukin stimulation. Interacts with HTLV-1 accessory protein p12I.,
相关产品： RS0001,RS0002,YM3028,YM3029
细胞定位： Cell membrane ; Single-pass type I membrane protein . Cell surface .
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