该基因编码的蛋白质是白细胞介素7(IL7)的受体。这种受体的功能需要白细胞介素2受体γ链(il2rg),它是多种细胞因子受体(包括白细胞介素2、4、7、9和15)共有的一种γ链。该蛋白在淋巴细胞发育过程中对V(D)J重组起到关键作用。该基因的缺陷可能与严重联合免疫缺陷(SCID)有关。另外,还发现了拼接转录变体。
The protein encoded by this gene is a receptor for interleukin 7 (IL7). The function of this receptor requires the interleukin 2 receptor, gamma chain (IL2RG), which is a common gamma chain shared by the receptors of various cytokines, including interleukins 2, 4, 7, 9, and 15. This protein has been shown to play a critical role in V(D)J recombination during lymphocyte development. Defects in this gene may be associated with severe combined immunodeficiency (SCID). Alternatively spliced transcript variants have been found.

基因名:IL7R
别名:CD127,CDW127,IL-7R-alpha,IL7RA,ILRA
基因ID:3575
Chromosome:
(GRCh37)
5 Start: 35852797 End: 35879705 Strand: 1
信号通路: 细胞增殖  免疫相关  炎症相关 
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