DOCK2 - dedicator of cytokinesis 2 Gene

中文名称：胞质分裂的奉献者 2

种属: Homo sapiens

同用名: IMD40

关于 DOCK2

功能概要

该基因编码的蛋白质属于 CDM 蛋白质家族。它在造血细胞中特异表达，主要在外周血白细胞中表达。该蛋白参与淋巴细胞响应趋化因子信号迁移所需的肌动蛋白细胞骨架重塑。它通过充当鸟嘌呤核苷酸交换因子 (GEF) 将结合的 GDP 交换为游离 GTP，从而激活 GTPases Rho 家族的成员，例如 RAC1 和 RAC2。该基因的突变会导致免疫缺陷 40 (IMD40) ，这是一种影响 T 细胞数量和功能的免疫缺陷的组合形式，同时还伴有 B 细胞和 NK 细胞功能的可变缺陷。[RefSeq 提供，2018 年 5 月]

The protein encoded by this gene belongs to the CDM protein family. It is specifically expressed in hematopoietic cells and is predominantly expressed in peripheral blood leukocytes. The protein is involved in remodeling of the actin Cytoskeleton required for lymphocyte migration in response to chemokine signaling. It activates members of the Rho family of GTPases, for example RAC1 and RAC2, by acting as a guanine nucleotide exchange factor (GEF) to exchange bound GDP for free GTP. Mutations in this gene result in immunodeficiency 40 (IMD40), a combined form of immunodeficiency that affects T cell number and function, also with variable defects in B cell and NK cell function. [provided by RefSeq, May 2018]