弹性蛋白

Elastin
弹性蛋白
标识
代号 ELN; SVAS; WBS; WS
扩展标识 遗传学：130160 鼠基因：95317 同源基因：73880 GeneCards: ELN Gene
直系同源体
物种 人类 小鼠
Entrez 2006 13717
Ensembl ENSG00000049540 ENSMUSG00000029675
UniProt P15502 P54320
mRNA序列 NM_000501 NM_007925
蛋白序列 NP_000492 NP_031951
基因位置 Chr 7:
73.44 – 73.48 Mb		 Chr 5:
134.7 – 134.75 Mb
PubMed查询 [1] [2]

弹性蛋白（英語：elastin）是一种维持结缔组织弹性的支持蛋白。弹性蛋白由成纤维细胞合成，存在于细胞外基质，是结缔组织中弹性纤维的主要结构蛋白，均质无定形。弹性蛋白分子由多条多肽链以共价键广泛交联在一起，形成网状，具有随机卷曲和交联性能，因此可使许多组织在拉伸或收缩后恢复形态，如血管、肺、弹性腱、软骨和皮肤。

弹性蛋白是脊椎动物身体的重要承载，也是储存机械能的地方。在人类基因组中，弹性蛋白由ELN基因编码[1]。

分子生物學

人原彈性蛋白的結構域結構

在哺乳動物中，基因組僅包含一種原彈性蛋白基因，稱為 ELN。 人類 ELN 基因是7號染色體上的一個 45 kb 片段，有 34 個外顯子，被近 700 個內含子中斷，第一個外顯子是分配其細胞外定位的信號肽。 大量內含子表明基因重組可能導致基因不穩定，導致 SVAS (Supravalvular aortic stenosis) 等疾病。 原彈性蛋白 mRNA 的表達在至少八個不同的轉錄起始位點下受到高度調控。

彈性蛋白的組織特異性變體是通過原彈性蛋白基因的選擇性剪接產生的。 至少有 11 種已知的人類原彈性蛋白亞型。 這些亞型受到發育調節，但處於同一發育階段的組織之間的差異很小。

參見

参考文献

  1. ^ Curran ME, Atkinson DL, Ewart AK, Morris CA, Leppert MF, Keating MT. The elastin gene is disrupted by a translocation associated with supravalvular aortic stenosis. Cell. April 1993, 73 (1): 159–68. PMID 8096434. doi:10.1016/0092-8674(93)90168-P. 

外部链接


弹性蛋白引用了美国国家医学图书馆提供的資料，这些資料属于公共领域。

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