The CD25 gene, also referred to as IL2RA (interleukin 2 receptor subunit α), is mapped to human chromosome 10p15. The gene spans a length of 48 kb with eight exons.
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The interleukin 2 receptor subunit α (IL2RA) gene encodes the α-chain of the IL-2 receptor complex. This receptor complex, made up of α, β, and a common γ chain, binds to its ligand, IL-2, which is a crucial growth factor for T- and B-cells. This ligand-receptor complex plays an important role in the regulation of immune responses. Variation in the chromosomal region containing this gene is associated with type 1 diabetes. This region is also linked to autoimmune thyroid disease indicating its role in autoimmunity. IL2RA has been found to confer a risk for multiple sclerosis.
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Large-scale genetic fine mapping and genotype-phenotype associations implicate polymorphism in the IL2RA region in type 1 diabetes.
Lowe C E, et al.
Nature Genetics, 39(9), 1074-1074 (2007)
IL2RA and IL7RA genes confer susceptibility for multiple sclerosis in two independent European populations.
Weber F, et al.
Genes and Immunity, 9(3), 259-259 (2008)
IL2RA genetic heterogeneity in multiple sclerosis and type 1 diabetes susceptibility and soluble interleukin-2 receptor production.
Maier L M, et al.
PLoS Genetics, 5(1), e1000322-e1000322 (2009)
Toward further mapping of the association between the IL2RA locus and type 1 diabetes.
Qu H Q, et al.
Diabetes, 56(4), 1174-1176 (2007)
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