Transforming growth factor-β-induced protein (TGFBIp), an extracellular matrix protein, is the second most abundant protein in the corneal stroma. In this review, we summarize the current knowledge concerning the expression, molecular structure, binding partners, and functions of human TGFBIp. To date, 74 mutations in the transforming growth factor-β-induced gene (TGFBI) are associated with amyloid and amorphous protein deposition in TGFBI-linked corneal dystrophies. We discuss the current understanding of the biochemical mechanisms of TGFBI-linked corneal dystrophies and propose that mutations leading to granular corneal dystrophy (GCD) decrease the solubility of TGFBIp and affect the interactions between TGFBIp and components of the corneal stroma, whereas mutations associated with lattice corneal dystrophy (LCD) lead to a destabilization of the protein that disrupts proteolytic turnover, especially by the serine protease HtrA1. Future research should focus on TGFBIp function in the cornea, confirmation of the biochemical mechanisms in vivo, and the development of disease models. Future therapies for TGFBI-linked corneal dystrophies might include topical agents that regulate protein aggregation or gene therapy that targets the mutant allele by CRISPR/Cas9 technology.

转化生长因子-β诱导蛋白（TGFBIp）是一种细胞外基质蛋白，是角膜基质中含量第二高的蛋白。在这篇综述中，我们总结了有关人类TGFBIp的表达，分子结构，结合伴侣和功能的当前知识。迄今为止，转化生长因子-β诱导基因（TGFBI）中的74个突变与TGFBI连接的角膜营养不良中的淀粉样蛋白和无定形蛋白沉积有关。我们讨论了当前对TGFBI生化机制的理解与角膜营养不良有关，并提出导致粒状角膜营养不良（GCD）的突变会降低TGFBIp的溶解度并影响TGFBIp与角膜基质成分之间的相互作用，而与晶格角膜营养不良（LCD）相关的突变会导致角膜营养不良破坏蛋白水解的蛋白质，特别是丝氨酸蛋白酶HtrA1。未来的研究应集中在角膜中的TGFBIp功能，体内生物化学机制的确认以及疾病模型的开发上。TGFBI连接的角膜营养不良的未来疗法可能包括调节CRISPR / Cas9技术靶向蛋白质等位基因或靶向突变等位基因的基因疗法的局部用药。