IL7R编码蛋白是白细胞介素7(IL7)受体的组分,其常见的白介素2受体γ链异源二聚体化。IL7R通过JAK-STAT途径发出信号。IL7调节T、B和NK细胞的发育。IL7R信号传导还调节VDJ和T细胞受体(TCR)重排。功能缺失性的IL7R突变导致严重的联合免疫缺陷综合征(SCID)。IL7R的激活突变导致癌基因独立于细胞因子结合发出信号(PMID:21892159)。IL7R的激活突变在小儿急性淋巴细胞白血病中最为常见。
IL7R gene encodes a component of the interleukin 7 (IL7) receptor that heterodimerizes with the common interleukin 2 receptor gamma chain. It signals through the JAK-STAT pathway. IL7 regulates T, B, and NK cell development. IL7R signaling also regulates VDJ and T-cell receptr (TCR) rearragements. IL7R mutations leading to loss of function result in severe combined immunodeficiency syndrome (SCID). Activating mutations in IL7R result in an oncogene that signals independently of cytokine binding . Activating IL7R mutations are most commonly found in pediatric acute lymphoblastic leukemia .
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