Cytokine receptor common subunit gamma

This gene encodes a transmembrane protein that is a common subunit of several interleukin receptor complexes. These receptors are comprised of alpha and beta subunits in addition to this gamma subunit. Signalling through this pathway in important in immune cell differentiation and function. Alternative splicing results in multiple transcript variants. [provided by RefSeq, May 2015]

IL2RG: Common subunit for the receptors for a variety of interleukins. Defects in IL2RG are the cause of severe combined immunodeficiency X-linked T-cell-negative/B-cell-positive/NK-cell- negative (XSCID); also known as agammaglobulinemia Swiss type. A form of severe combined immunodeficiency (SCID), 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 present in infancy 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. Defects in IL2RG are the cause of X-linked combined immunodeficiency (XCID). 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. Belongs to the type I cytokine receptor family. Type 5 subfamily.

Protein type: Receptor, cytokine; Membrane protein, integral

Cellular Component: external side of plasma membrane; membrane

Molecular Function: interleukin-2 binding

Biological Process: positive regulation of B cell differentiation; positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation; positive regulation of lymphocyte differentiation; positive regulation of T cell differentiation in the thymus; regulation of gene expression