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研究背景

The protein encoded by this gene is an important signaling component of many interleukin receptors, including those of interleukin -2, -4, -7 and -21, and is thus referred to as the common gamma chain. Mutations in this gene cause X-linked severe combined immunodeficiency (XSCID), as well as X-linked combined immunodeficiency (XCID), a less severe immunodeficiency disorder. [provided by RefSeq, Mar 2010],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.,

研究领域

Cytokine-cytokine receptor interaction;Endocytosis;Jak_STAT;Primary immunodeficiency;