Rab23 ' s genetic structure, function and related diseases: a review
Rab23 ' s genetic structure, function and related diseases: a review
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Rab23基因结构、功能及相关疾病的综述
DOI：
10.1042/bsr20160410
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发表时间：
2017
影响因子：
4
通讯作者：
Li Cheng-Xin
中科院分区：
文献类型：
--
作者：
Zheng Li-Qiang;Chi Su-Min;Li Cheng-Xin
Rab23已被证明在真核细胞的膜运输和蛋白质转运中发挥作用。Rab23也是Sonic hedgehog（Shh）信号通路的间接负调节因子。Rab23基因的无义突变和蛋白缺失与小鼠神经管缺陷和人类多种疾病如神经系统、乳腺、内脏和皮肤肿瘤的异常表达有关。Rab23在抗A组链球菌感染过程中可能参与自噬体的形成。本文对Rab23的功能进行了简要综述，并对Rab23在遗传学研究、细胞膜转运、自噬途径等方面的作用进行了综述，特别是在肿瘤促进、疾病发病机制等方面的研究，并探讨了Rab23调控的可能机制。
Rab23 has been proven to play a role in membrane trafficking and protein transport in eukaryotic cells. Rab23 is also a negative regulator of the Sonic hedgehog (Shh) signaling pathway in an indirect way. The nonsense mutation and loss of protein of Rab23 has been associated with neural tube defect in mice and aberrant expression in various diseases in human such as neural system, breast, visceral, and cutaneous tumor. In addition, Rab23 may play joint roles in autophagosome formation during anti-infection process against Group A streptococcus. In this review, we give a brief review on the functions of Rab23, summarize the involvement of Rab23 in genetic research, membrane trafficking, and potential autophagy pathway, especially focus on tumor promotion, disease pathogenesis, and discuss the possible underlying mechanisms that are regulated by Rab23.