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  • 發布時間:2022-08-09 14:00 原文鏈接: ELN基因編碼功能及結構描述

    這個基因編碼的蛋白質是彈性纖維的兩個組成部分之一彈性纖維是細胞外基質的一部分,能賦予包括心臟、皮膚、肺、韌帶和血管在內的器官和組織彈性。編碼的蛋白質富含疏水性氨基酸,如甘氨酸和脯氨酸,它們形成以賴氨酸殘基之間的交聯為界的可移動疏水區編碼蛋白的降解產物,稱為彈性蛋白衍生肽或彈性因子,結合彈性蛋白受體復合物和其他受體,刺激單核細胞和皮膚成纖維細胞的遷移和增殖彈性因子也可以促進癌癥的進展該基因的缺失和突變與主動脈瓣上狹窄(SVAS)和常染色體顯性遺傳性皮膚松弛有關[由RefSeq提供,2017年8月]

    This gene encodes a protein that is one of the two components of elastic fibers. Elastic fibers comprise part of the extracellular matrix and confer elasticity to organs and tissues including the heart, skin, lungs, ligaments, and blood vessels. The encoded protein is rich in hydrophobic amino acids such as glycine and proline, which form mobile hydrophobic regions bounded by crosslinks between lysine residues. Degradation products of the encoded protein, known as elastin-derived peptides or elastokines, bind the elastin receptor complex and other receptors and stimulate migration and proliferation of monocytes and skin fibroblasts. Elastokines can also contribute to cancer progression. Deletions and mutations in this gene are associated with supravalvular aortic stenosis (SVAS) and autosomal dominant cutis laxa. [provided by RefSeq, Aug 2017]

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