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。
Activin receptor-like kinase（ALK）2 in human is located in 2q23-24, the intron is as long as 0.5-6.5 kb, and 3＇ untranslated region has important function in regulating ALK2. ALK2 is conservatively consisted with extracellular domain, transmembrane domain, and intracellular domain which contains serine/threonine. ALK2, a member of bone morphogenetic protein（BMP） recepters can transduce cell signal which can be divided into canonical and non-canonical Smad signaling pathway. The ALK2-mediated canonical Smad signal has important function in regulating bone, cartilage, and tooth. ALK2 protein can be seen in various organs, including bone, cartilage, tooth, heart. ALK2 promotes bone formation in the early development stage of skull and inhibits bone formation in the maturation stage of development. It is known that mutant of ALK2 leads to ectopic bone formation which helps us understand the function of ALK2 in physical and pathological conditions.
出处
《国际口腔医学杂志》
CAS
CSCD
北大核心
2017年第2期235-238,共4页
International Journal of Stomatology
基金
国家自然科学基金(81320108011)~~
