IL2RG

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IL2RG

A gene on chromosome Xq13.1 that encodes the gamma subunit of interleukin-2 (IL-2) receptor, which forms a heterotrimer with alpha and gamma subunits resulting in a high-affinity IL-2 receptor. The gamma chain is an important signalling component of many IL receptors, including those of IL-2, IL-4, IL-7 and IL-21, and is thus referred to as the common gamma chain.

Molecular pathology
Defects in IL2RG cause X-linked severe combined immunodeficiency (XSCID), as well as the less severe X-linked combined immunodeficiency (XCID).
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Sample Median length, bp Karyotype Non-chrY (a) ChrY P48 46XY 164 163 P52 47XY+21 161 153 P59 47XY+18 165 162 P64 47XY+13 164 155 P73 46XY 159 148 P74 47XY+21 164 159 P75 46XY 164 152 Sample Fetal DNA estimated from chr, % All reads 0-150 bp 150-170 bp 170-600 bp P48 6.
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