国际口腔医学杂志 ›› 2017, Vol. 44 ›› Issue (2): 235-238.doi: 10.7518/gjkq.2017.02.024
张雪1, 徐召南1, 刘麒麟1, 李超2, 孙宏晨1
Zhang Xue, Xu Zhaonan, Liu Qilin, Li Chao, Sun Hongchen
摘要: 人类的ALK2基因位于染色体2q23~24,其内含子大都在0.5~6.5 kb,其3’非编码区对ALK2基因表达起着重要的调节作用。ALK2蛋白由胞外区、跨膜区和富含丝氨酸-苏氨酸序列的胞内区组成,在组成上高度保守。ALK2是骨形态发生蛋白(BMP)家族受体中的一员并转导BMP信号。ALK2信号转导通路分为经典的Smad信号转导通路和非Smad信号转导通路,前者在促进骨、软骨和牙发生方面发挥着重要的作用。ALK2蛋白广泛表达于机体的不同组织,如骨、软骨、牙体和心脏等。ALK2在颅骨发生发育早期促进成骨,在成熟期抑制成骨;ALK2基因突变增强可导致异位骨化,体现了ALK2独特于其他BMP受体的重要生理病理学意义。
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