α-晶状体蛋白的结构和功能及基因学研究进展

Recent research progress in the function, structure and genetics of alpha-crystallin

摘要:

α-晶状体蛋白包括αA-，αB-晶状体蛋白，是哺乳动物晶状体的主要蛋白,属于小热休克蛋白家族成员，具有分子伴侣功能，可以抑制变性蛋白质的凝聚和酶的失活。α-晶状体蛋白基因突变可导致白内障和肌病。本文对α-晶状体蛋白的分布、结构、功能以及基因学等方面综述。

Abstract:

Alpha-crystallin consists of two subunits: αA- and αB- crystalline, and is a major protein component of the mammalian eye lens. Being a member of the small heat-shock protein family, alpha-crystallin possesses chaperone-like function. It prevents aggregation of partially denatured proteins and the inactivation of enzymes. Mutations in alpha-crystallin genes can cause cataract and myopathy. This review focused on some of the expression, structure, function and genetics of alpha-crystallin.