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interleukin 2 receptor, gamma (severe combined immunodeficiency)
Identifiers
Symbol IL2RG
Alt. symbols SCIDX1, IMD4
Entrez 3561
HUGO 6010
OMIM 308380
RefSeq NM_000206
UniProt P31785
Other data
Locus Chr. X q13

The cytokine receptor common gamma chainc) (or CD132) is a cytokine receptor sub-unit that is common to the receptor complexes for at least six different interleukin receptors: IL-2, IL-4, IL-7, IL-9, IL-15 and interleukin-21 receptor. The γc glycoprotein is a member of the Type I cytokine receptor family expressed on most lymphocyte (white blood cell) populations, and its gene is found on the X-chromosome of mammals.

Contents

Structure

The γc chain is an integral membrane protein that spans across the cell membrane, with extracellular, transmembrane and cytosolic (inside the cell) domains.

Ligands

The γc chain partners with other ligand-specific receptors to direct lymphocytes to respond to cytokines including IL-2, IL-4, IL-7, IL-9, IL-15 and IL-21. [1]

Function

Lymphocytes expressing the common gamma chain can form functional receptors for these cytokine proteins, which transmit signals from one cell to another and direct programs of cellular differentiation.

Gene

IL2RG is the gene that encodes the common gamma chain.

Clinical significance

Defects in the γc chain are the major cause of X-linked severe combined immunodeficiency (X-SCID) in humans, sufferers have no functional immunity and die within months after birth without successful bone marrow transplantation or isolation from pathogens. Mutations that result in no γc chain, or remove the signal transducing cytosilic domain result in this disorder. Without important developmental signals from IL-7 and IL-15, T-cell and NK cell populations respectively fail to develop. Experiments in animal models has shown X-SCID to occur similarly in dogs, but not in mice[2]. Less disastrous defects in the γc chain gene can result in X-linked combined immunodeficiency (X-CID), a less severe form of immunodeficiency.

References

  1. ^ Asao H, Okuyama C, Kumaki S, et al. (2001). "Cutting edge: the common gamma-chain is an indispensable subunit of the IL-21 receptor complex". J. Immunol. 167 (1): 1–5. PMID 11418623. 
  2. ^ Henthorn PS, Somberg RL, Fimiani VM, Puck JM, Patterson DF, Felsburg PJ (1994). "IL-2R gamma gene microdeletion demonstrates that canine X-linked severe combined immunodeficiency is a homologue of the human disease" (abstract only). Genomics 23 (1): 69–74. doi:10.1006/geno.1994.1460. PMID 7829104. http://www.sciencedirect.com/science?_ob=ArticleURL&_udi=B6WG1-45PMSC1-FK&_user=409397&_rdoc=1&_fmt=&_orig=search&_sort=d&view=c&_acct=C000019483&_version=1&_urlVersion=0&_userid=409397&md5=30a567571392ace6f5a8bac4114b2fd5. 

External links

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