配对盒因子6（Pax6）基因是Pax多基因转录因子家族成员之一，是与胰腺发育、α细胞分化、高血糖素基因的转录和激活、β细胞功能以及胰岛素表达密切相关的关键转录因子，在众多调节β细胞发育的基因中发挥中心作用，其突变/变异已成为糖耐量异常和早发糖尿病的致病原因或易感位点。该文就Pax6基因突变与胰腺发育及糖尿病发病关系的研究进展进行综述。

Paired box 6(Pax6) is one of the members of Pax polygene transcription factor family, and plays an important role in the development of pancreas, α cell differentiation, transcription and activation of glucagon gene, β cell function and expression of insulin. Pax6 is the major gene in regulating the development of β cells, and its mutation contributes to the pathogenesis of impaired glucose tolerance and early-onset diabetes mellitus. The research progress of associations of Pax6 mutation with development of pancreas and diabetes mellitus is reviewed in this paper.