Ankyrins ( Ank ) are ubiquitously expressed proteins that play a critical role in the integrity of cytoskeleton and cellular signalling. Their presence in metazoans and evolutionary conserved protein primary sequence indicates their functional significance. Tissue-specific isoforms and an array of transcript variants make this protein one of the indispensable cellular components. Membrane-binding domains consist of ankyrin repeats that bind with several functional membrane proteins that enable maintaining cellular integrity. Cytosolic ankyrins help in cellular signal transduction. Linkage studies and recent genome-wide association studies uncovered the pathogenic roles of ankyrins (ankyrin-R, ankyrin-B and ankyrin-G) in several diseases, such as hereditary spherocytosis, long QT syndrome, intellectual disability, and CRASH syndrome, among several others. Identification of Ank3 in celiac disease may potentially explain the link between neuronal health and immunity. It is thus warranted to investigate the role of neuronal factors in immune diseases and vice versa. In this review, we briefly discussed the contribution of ankyrin genes to human diseases.

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人类锚蛋白及其对疾病生物学的贡献：更新

锚蛋白 (Ank) 是一种普遍表达的蛋白质，在细胞骨架和细胞信号传导的完整性中起着关键作用。它们在后生动物和进化保守的蛋白质一级序列中的存在表明它们的功能意义。组织特异性同种型和一系列转录变体使这种蛋白质成为必不可少的细胞成分之一。膜结合域由锚蛋白重复序列​​组成，这些重复序列与几种能够维持细胞完整性的功能性膜蛋白结合。胞质锚蛋白有助于细胞信号转导。连锁研究和最近的全基因组关联研究揭示了锚蛋白（锚蛋白-R、锚蛋白-B 和锚蛋白-G）在多种疾病中的致病作用，例如遗传性球形红细胞增多症、长 QT 综合征、智力障碍和 CRASH 综合征，在其他几个。在乳糜泻中鉴定 Ank3 可能解释神经元健康与免疫之间的联系。因此，有必要研究神经元因素在免疫疾病中的作用，反之亦然。在这篇综述中，我们简要讨论了锚蛋白基因对人类疾病的贡献。