IL2RG

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

IL2RG (interleukin 2 receptor, gamma (severe combined immunodeficiency)) is a human gene that provides instructions for making a protein called the common gamma chain. This protein is located on the surface of immature blood-forming cells in bone marrow. It has one end outside the cell like an antenna and the other end inside to transmit signals to the cell's nucleus. The common gamma chain partners with other proteins to direct blood-forming cells to form lymphocytes (a type of white blood cell). The receptor also directs the growth and maturation of lymphocyte subtypes: T cells, B cells, and natural killer cells. These cells kill viruses, make antibodies, and help regulate the entire immune system.

The IL2RG gene is located on the long (q) arm of the X chromosome at position 13.1, from base pair 70,110,279 to base pair 70,114,423.

[edit] Related conditions

X-linked severe combined immunodeficiency is caused by mutations in the IL2RG gene. More than 200 different mutations in the IL2RG gene have been identified in people with X-linked severe combined immunodeficiency (SCID). Most of these mutations involve changes in one or a few DNA building blocks (nucleotides) in the gene. These changes lead to the production of a nonfunctional version of the common gamma chain or no protein at all. Without the common gamma chain, important chemical signals are not relayed to the nucleus and lymphocytes cannot develop normally. A lack of functional mature lymphocytes disrupts the immune system's ability to protect the body from infection.

[edit] References

Buckley RH (2004). "Molecular defects in human severe combined immunodeficiency and approaches to immune reconstitution". Annu Rev Immunol 22: 625-55. PMID 15032591.
Kalman L, Lindegren ML, Kobrynski L, Vogt R, Hannon H, Howard JT, Buckley R (2004). "Mutations in genes required for T-cell development: IL7R, CD45, IL2RG, JAK3, RAG1, RAG2, ARTEMIS, and ADA and severe combined immunodeficiency: HuGE review". Genet Med 6 (1): 16-26. PMID 14726805.