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KIAA0319是发展性言语阅读障碍的易感基因。本文查阅了国内外关于KIAA0319基因及蛋白功能最新的研究报道进行总结。KIAA0319基因定位于6p22.2,含有21个外显子,cDNA全长约6 622bp,属于KIAA基因家族。该基因编码的全长蛋白质含有1 072个氨基酸,分子量为116kDa,为Ⅰ型跨膜糖蛋白。研究发现该蛋白与神经元树突发育和功能相关,影响神经元之间的联结和迁移,在神经发育中起关键作用。KIAA0319蛋白具体功能还有待进一步研究。
KIAA0319 is a susceptibility gene for developmental dyslexia. This article reviewed the latest reports on the function of KIAA0319 genes and proteins at home and abroad. KIAA0319 gene located in 6p22.2, contains 21 exons, cDNA length of about 6 622bp, belonging to the KIAA gene family. The gene encodes a full-length protein containing 1 072 amino acids with a molecular weight of 116 kDa, which is type I transmembrane glycoprotein. The study found that the protein dendrites neuronal development and function related to affect the connection and migration between neurons play a key role in neurodevelopment. KIAA0319 protein specific function remains to be further studied.