ACE

This gene encodes an enzyme involved in blood pressure regulation and electrolyte balance. It catalyzes the conversion of angiotensin I into a physiologically active peptide angiotensin II. Angiotensin II is a potent vasopressor and aldosterone-stimulating peptide that controls blood pressure and fluid-electrolyte balance. This angiotensin converting enzyme (ACE) also inactivates the vasodilator protein, bradykinin. Accordingly, the encoded enzyme increases blood pressure and is a drug target of ACE inhibitors, which are often prescribed to reduce blood pressure. This enzyme additionally plays a role in fertility through its ability to cleave and release GPI-anchored membrane proteins in spermatozoa. Many studies have associated the presence or absence of a 287 bp Alu repeat element in this gene with the levels of circulating enzyme. This polymorphism, as well as mutations in this gene, have been implicated in a wide variety of diseases including cardiovascular pathophysiologies, psoriasis, renal disease, stroke, and Alzheimer's disease. Regulation of the homologous ACE2 gene may be involved in progression of disease caused by several human coronaviruses, including SARS-CoV and SARS-CoV-2. Alternative splicing results in multiple transcript variants encoding both somatic (sACE) and male-specific testicular (tACE) isoforms. [provided by RefSeq, Sep 2020]

本基因编码一种参与血压调节和电解质平衡的酶。该酶催化血管紧张素I转化为具有生理活性的肽类物质血管紧张素II。血管紧张素II是一种强效的血管加压素和醛固酮刺激肽，它控制血压和体液-电解质平衡。此血管紧张素转换酶（ACE）还能够使血管扩张蛋白缓激肽失活。因此，编码的酶会增加血压，并且是ACE抑制剂（常用于降低血压）的药物靶点。此外，该酶通过其切割和释放精子细胞中的GPI锚定膜蛋白的能力，在生育力方面发挥重要作用。许多研究表明，该基因中287 bp Alu重复元件的存在与否与循环酶的水平相关。此多态性以及基因中的突变已被关联到多种疾病，包括心血管病理生理学、银屑病、肾脏疾病、中风和阿尔茨海默病。同源ACE2基因的调控可能与由多种人类冠状病毒（包括SARS-CoV和SARS-CoV-2）引起的疾病进展有关。选择性剪接导致编码既包括体细胞（sACE）也包括男性特异性睾丸（tACE）异构体的多种转录本变体。[由RefSeq提供，2020年9月]