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与食管癌相关的HSPB1基因编码功能描述

2022.8.08

这种基因编码的蛋白质是由环境压力和发育变化引起的。编码蛋白参与应激抵抗和肌动蛋白组织,并在应激诱导下从细胞质转运到细胞核。该基因的缺陷是导致2型Charcot-Marie牙病(CMT2F)和远端遗传性运动神经病(DHMN)的原因。
The protein encoded by this gene is induced by environmental stress and developmental changes. The encoded protein is involved in stress resistance and actin organization and translocates from the cytoplasm to the nucleus upon stress induction. Defects in this gene are a cause of Charcot-Marie-Tooth disease type 2F (CMT2F) and distal hereditary motor neuropathy (dHMN).

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