Il-2 Receptor Alpha (IL2RA) Active Protein

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]

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: Membrane protein, integral; Receptor, cytokine

Chromosomal Location of Human Ortholog: Xq13.1

Cellular Component: membrane; integral to plasma membrane; plasma membrane; external side of plasma membrane

Molecular Function: protein binding; interleukin-4 receptor activity; interleukin-2 receptor activity; interleukin-7 binding; interleukin-7 receptor activity; interleukin-2 binding

Biological Process: viral reproduction; immune response; signal transduction

Disease: Combined Immunodeficiency, X-linked; Severe Combined Immunodeficiency, X-linked