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人类小肠型脂肪酸结合蛋白(FABP2)特异性表达于成熟的小肠上皮细胞。作为脂类伴侣蛋白,在食物中长链脂肪酸的吸收、运输和代谢中发挥着重要的生物学作用。FABP2基因启动子区存在多态性位点,并且由于这些多态性位点的完全连锁不平衡而形成活性不同的两种单倍型A和B(haplotype A,B),具有不同单倍型的FABP2基因表达存在差异。第2外显子54位点存在单核苷酸多态性,即Ala54Thr,此错义突变位点改变了FABP2的结构和功能。近年研究发现,FABP2基因多态性改变与血脂障碍以及代谢综合征的其他特征相关。本文拟从FABP2基因的结构和功能及其多态性与脂代谢关系作一综述。
Human small intestine type fatty acid binding protein (FABP2) is specifically expressed in mature intestinal epithelial cells. As a lipid chaperone protein, it plays an important biological role in the absorption, transport and metabolism of long-chain fatty acids in food. There are polymorphic sites in the promoter region of FABP2 gene and two haplotype A and B (haplotype A, B) with different activities due to complete linkage disequilibrium between these polymorphic sites, with different haplotypes FABP2 gene expression differences. There is a single nucleotide polymorphism at position 54 of exon 2, Ala54Thr, which changes the structure and function of FABP2. Recent studies have found that FABP2 gene polymorphisms associated with dyslipidemia and other metabolic syndrome characteristics. This article is to review the relationship between the structure and function of FABP2 gene and its polymorphism and lipid metabolism.