整合素亚基α2b(ITGA2B)基因

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整合素亚基α2b(ITGA2B)基因

2024-06-29 03:37| 来源: 网络整理| 查看: 265

功能概要

该基因编码整合素α链蛋白质家族的成员。编码的前原蛋白经过蛋白水解处理以生成轻链和重链,它们通过二硫键结合形成 alpha-IIb/beta-3 整合素细胞粘附受体的亚基。该受体通过介导血小板聚集在血液凝固系统中起着至关重要的作用。该基因的突变与血小板型出血性疾病有关,其特征是血小板聚集失败,包括 Glanzmann 血小板无力症。[RefSeq 提供,2016 年 1 月]

This gene encodes a member of the Integrin alpha chain family of proteins. The encoded preproprotein is proteolytically processed to generate LIGHT and heavy chains that associate through disulfide linkages to form a subunit of the alpha-IIb/beta-3 Integrin cell adhesion receptor. This receptor plays a crucial role in the blood coagulation system, by mediating platelet aggregation. Mutations in this gene are associated with platelet-type bleeding disorders, which are characterized by a failure of platelet aggregation, including Glanzmann thrombasthenia. [provided by RefSeq, Jan 2016]



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