GPX4 - glutathione peroxidase 4 Gene

中文名称：谷胱甘肽过氧化物酶 4

种属: Homo sapiens

同用名: MCSP; SMDS; GPx-4; PHGPx; snGPx; GSHPx-4; snPHGPx

关于 GPX4

功能概要

该基因编码的蛋白质属于谷胱甘肽过氧化物酶家族，其成员催化过氧化氢、有机氢过氧化物和脂质氢过氧化物的还原，从而保护细胞免受氧化损伤。该基因家族的几种同工酶存在于脊椎动物中，它们在细胞位置和底物特异性方面有所不同。这种同工酶对脂质氢过氧化物有很高的偏好，并保护细胞免受膜脂质过氧化和细胞死亡。它也是正常精子发育所必需的；因此，它已被确定为一种“兼职”蛋白，因为它能够作为过氧化物酶以及成熟精子中的结构蛋白发挥双重功能。该基因的突变与 Sedaghatian 型脊椎骨干骺端发育不良 (SMDS) 相关。这种同功酶也是一种硒蛋白，在其活性位点含有稀有氨基酸硒代半胱氨酸 (Sec) 。 Sec 由 UGA 密码子编码，通常表示翻译终止。硒蛋白 mRNA 的 3' UTR 包含一个保守的茎环结构，称为 Sec 插入序列 (SECIS) 元件，这是将 UGA 识别为 Sec 密码子而不是终止信号所必需的。由选择性剪接或使用替代启动子产生的转录变体已被描述为编码具有不同亚细胞定位的亚型。[RefSeq 提供，2018 年 12 月]

The protein encoded by this gene belongs to the Glutathione Peroxidase family, members of which catalyze the reduction of hydrogen peroxide, organic hydroperoxides and lipid hydroperoxides, and thereby protect cells against oxidative damage. Several isozymes of this gene family exist in vertebrates, which vary in cellular location and substrate specificity. This isozyme has a high preference for lipid hydroperoxides and protects cells against membrane lipid peroxidation and cell death. It is also required for normal sperm development; thus, it has been identified as a 'moonlighting' protein because of its ability to serve dual functions as a peroxidase, as well as a structural protein in mature spermatozoa. Mutations in this gene are associated with Sedaghatian type of spondylometaphyseal dysplasia (SMDS). This isozyme is also a selenoprotein, containing the rare amino acid selenocysteine (Sec) at its active site. Sec is encoded by the UGA codon, which normally signals translation termination. The 3' UTRs of selenoprotein mRNAs contain a conserved stem-loop structure, designated the Sec insertion sequence (SECIS) element, that is necessary for the recognition of UGA as a Sec codon, rather than as a stop signal. Transcript variants resulting from alternative splicing or use of alternate promoters have been described to encode isoforms with different subcellular localization. [provided by RefSeq, Dec 2018]