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  • 發布時間:2022-08-22 16:36 原文鏈接: SOD2基因編碼的功能和結構描述

    該基因屬于鐵錳超氧化物歧化酶家族。它編碼一種線粒體蛋白,形成一個同四聚體,每個亞單位結合一個錳離子。這種蛋白質與氧化磷酸化的超氧化物副產物結合,并將其轉化為過氧化氫和雙原子氧。該基因突變與特發性心肌病(IDC)、早衰、散發性運動神經元疾病和癌癥有關。該基因的選擇性剪接導致多個轉錄變體。在1號染色體上發現了一個相關的假基因。

    This gene is a member of the iron/manganese superoxide dismutase family. It encodes a mitochondrial protein that forms a homotetramer and binds one manganese ion per subunit. This protein binds to the superoxide byproducts of oxidative phosphorylation and converts them to hydrogen peroxide and diatomic oxygen. Mutations in this gene have been associated with idiopathic cardiomyopathy (IDC), premature aging, sporadic motor neuron disease, and cancer. Alternative splicing of this gene results in multiple transcript variants. A related pseudogene has been identified on chromosome 1.

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