The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
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DOI：
10.3390/ijms22052615
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发表时间：
2021-03-05
影响因子：
5.6
通讯作者：
Skerrett IM
中科院分区：
文献类型：
--
作者：
Bailey RA;Beahm DL;Skerrett IM
甘氨酸是一种具有独特性质的氨基酸，因为它的侧链由一个氢原子组成。它赋予蛋白质构象灵活性，保守的甘氨酸通常指示蛋白质结构域涉及紧密的转弯或弯曲。在人类表皮中表达的6种β-型连接蛋白(Cx26、Cx30、Cx30.3、Cx31、Cx31.1和Cx32)均在第12位(G12)含有甘氨酸。G12位于细胞质氨基末端的一半，取代以各种方式改变连接蛋白的功能，在某些情况下改变蛋白质的相互作用并导致细胞死亡。也有证据表明，G12的改变会以连接蛋白和氨基酸特有的方式改变氨基端的结构。本文综述了G12在连接蛋白中作用的结构、功能和生理信息，重点介绍了在人类表皮中表达的β-连接蛋白。这些β-连接蛋白中G12替换的重要性在两种遗传性皮肤病--角膜炎鱼鳞病和变异性红斑角化症中被揭示出来，这两种疾病都是由影响G12的错义突变引起的。
Glycine is an amino acid with unique properties because its side chain is composed of a single hydrogen atom. It confers conformational flexibility to proteins and conserved glycines are often indicative of protein domains involving tight turns or bends. All six beta-type connexins expressed in human epidermis (Cx26, Cx30, Cx30.3, Cx31, Cx31.1 and Cx32) contain a glycine at position 12 (G12). G12 is located about halfway through the cytoplasmic amino terminus and substitutions alter connexin function in a variety of ways, in some cases altering protein interactions and leading to cell death. There is also evidence that alteration of G12 changes the structure of the amino terminus in connexin- and amino acid- specific ways. This review integrates structural, functional and physiological information about the role of G12 in connexins, focusing on beta-connexins expressed in human epidermis. The importance of G12 substitutions in these beta-connexins is revealed in two hereditary skin disorders, keratitis ichthyosis and erythrokeratodermia variabilis, both of which result from missense mutations affecting G12.
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