[关键词]
[摘要]
PAX6基因在胚胎发育过程中起着重要的作用。它通过调节细胞增殖迁移、分化和黏附等活动，在不同的组织和细胞中发挥不同的功能 。PAX6基因的异常表达是许多先天性疾病的原因，尤其在眼睛、神经系统、鼻、胰腺和内分泌腺等组织器官的先天性疾病。我们介绍PAX6基因的背景知识，并对其上下游基因和基因突变对眼发育的影响进行综述。
[Key word]
[Abstract]
PAX6 gene plays an important role on the embryological development through regulating cell proliferation, migration, differentiation and adhesion. This is supported by the fact that expression of PAX6 is dysregulated in several congenital diseases, especially in eye, nose, nerve system, pancreatic gland and endocrinologic system. In this review a general background of the PAX6 gene was summarized, and we also give a brief introduction of roles on genes up and down stream from PAX6 gene and its genetic mutation within eye development.
[中图分类号]
[基金项目]
国家自然科学基金资助(No.30973272)
